General Information of Disease (ID: DIS6ZC3X)

Disease Name Brain disease
Synonyms encephalopathy; disorder of brain; disease of brain; disease or disorder of brain; brain disease; brain disease or disorder
Disease Class 8C70-8E61: Brain disease
Definition A disease affecting the brain or part of the brain.|Editor note: NCIT has different classes for brain disease and encephalopathy
Disease Hierarchy
DISEP2HK: Central and peripheral nervous disease
DISWD40R: Disease
DIS6ZC3X: Brain disease
ICD Code
ICD-11
ICD-11: 8C70-8E61
ICD-10
ICD-10: G00-G99
Disease Identifiers
MONDO ID
MONDO_0005560
MESH ID
D001927
UMLS CUI
C0006111
MedGen ID
14214
SNOMED CT ID
81308009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 7 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Dacarbazine DMNPZL4 Approved Small molecular drug [1]
Dasatinib DMJV2EK Approved Small molecular drug [2]
Gadoteridol DMRGSKK Approved Small molecular drug [3]
Iodamide DM8FOMA Approved Small molecular drug [3]
Iomeprol DMRPPF5 Approved Small molecular drug [3]
Pramiracetam DM2FHG3 Approved (orphan drug) Small molecular drug [3]
Temozolomide DMKECZD Approved Small molecular drug [4]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 Drug(s)
This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
99mTc-tropantiol DMH81QG Phase 2/3 NA [5]
11C-PBR-28 DMSLMY7 Phase 2 NA [6]
BAY-85-8102 DMOUVE7 Phase 1 NA [7]
------------------------------------------------------------------------------------
This Disease is Treated as An Indication in 1 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
BC-19 DM8MFS6 Investigative NA [8]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 55 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALB TTFNGC9 Limited Biomarker [9]
KCNQ2 TTPXI3S Limited Biomarker [10]
MPO TTVCZPI Limited Biomarker [11]
OGG1 TTRU01G Limited Biomarker [12]
OTC TT5KIO9 Limited Biomarker [13]
SLC1A1 TTG2A6F Limited Biomarker [14]
SLC6A5 TTI0138 Limited Biomarker [15]
TH TTUHP71 Limited Therapeutic [16]
TYMS TTP1UKZ Limited Biomarker [17]
CDK5 TTL4Q97 moderate Altered Expression [18]
GRIN2B TTN9D8E moderate Biomarker [19]
SLC1A3 TT8WRDA moderate Biomarker [20]
SV2A TTT3P91 moderate Biomarker [21]
TSPO TTPTXIN moderate Biomarker [22]
ABCA4 TTLB52K Strong Genetic Variation [23]
ABCC9 TTEF5MJ Strong Genetic Variation [24]
ADAMTS4 TTYG6BU Strong Biomarker [25]
APEH TTYWEDQ Strong Biomarker [26]
APP TTE4KHA Strong Biomarker [27]
C9orf72 TTA4SHR Strong Biomarker [28]
CDK5R1 TTBYM6V Strong Biomarker [29]
COASY TT4YO0Z Strong Biomarker [30]
CYP46A1 TT4EB85 Strong Biomarker [31]
DPYSL2 TTZCW3T Strong Altered Expression [32]
FDPS TTIKWV4 Strong Biomarker [33]
FES TTLBY21 Strong Biomarker [33]
FGF14 TTKJX1V Strong Biomarker [34]
GAP43 TTSGLN5 Strong Biomarker [35]
GBA TT1B5PU Strong Biomarker [36]
GIP TT40HS5 Strong Biomarker [37]
GPR17 TTMPART Strong Biomarker [38]
GRIN2A TTKJEMQ Strong Biomarker [39]
GRM2 TTXJ47W Strong Biomarker [40]
GRN TT0LWE3 Strong Biomarker [41]
HCRT TTU5HJP Strong Altered Expression [42]
HTR4 TT07C3Y Strong Altered Expression [43]
HTT TTIWZ0O Strong Biomarker [44]
IDS TTNY2AP Strong Biomarker [45]
IFNB1 TT4TZ8J Strong Biomarker [46]
MAPK10 TT056SO Strong Genetic Variation [47]
NR4A2 TT9HKN3 Strong Biomarker [48]
P2RX7 TT473XN Strong Biomarker [49]
PDE9A TTZOEBC Strong Biomarker [50]
PDF TT9SL3Q Strong Biomarker [51]
PREP TTNGKET Strong Biomarker [52]
RTN4R TTVRZUO Strong Biomarker [53]
S100B TTQ0V86 Strong Biomarker [54]
SCN2A TTLJTUF Strong Biomarker [55]
SLC12A1 TTS087L Strong Biomarker [56]
SLC22A8 TTTQR47 Strong Biomarker [57]
SLC5A4 TTN7Y4P Strong Biomarker [58]
SLC6A3 TTVBI8W Strong Biomarker [59]
SNCA TT08OSU Strong Biomarker [60]
TARDBP TT9RZ03 Strong Biomarker [61]
CYP2A6 TTAQ6ZW Definitive Biomarker [62]
------------------------------------------------------------------------------------
⏷ Show the Full List of 55 DTT(s)
This Disease Is Related to 6 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNG2 DTRL7OG Strong Biomarker [63]
KCNK2 DTENHUP Strong Altered Expression [64]
SLC12A2 DTHKL3Q Strong Biomarker [65]
SLC30A3 DTKMECW Strong Altered Expression [66]
SLC9A6 DTN0JXW Strong Genetic Variation [67]
SLC9A9 DT8LP62 Strong Genetic Variation [67]
------------------------------------------------------------------------------------
⏷ Show the Full List of 6 DTP(s)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MAT1A DEQ6NC9 Strong Biomarker [68]
QARS1 DEVSTRI Strong Genetic Variation [69]
------------------------------------------------------------------------------------
This Disease Is Related to 74 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CP OTM8JE4Y Limited Biomarker [70]
RBFOX3 OTL0F3D6 Limited Genetic Variation [71]
SCO1 OTC45UGB Limited Biomarker [72]
TJP1 OTBDCUPK Limited Biomarker [73]
TSC2 OT47LWI9 Limited Biomarker [74]
AQP4 OTA9MYD5 moderate Biomarker [75]
CALML6 OTHVPDSD moderate Genetic Variation [76]
CETN1 OTGQ8JOZ moderate Genetic Variation [76]
DISC1 OT43AW4H moderate Biomarker [77]
ABCG4 OT2XJIOG Strong Biomarker [78]
ACTL6B OTO7EJIS Strong Biomarker [79]
ADAMTS2 OTTK22NO Strong Biomarker [25]
ASTN1 OT23FQIB Strong Genetic Variation [80]
ATP6V0D1 OT9GU2NW Strong Biomarker [29]
CDK5R2 OTNUTLPU Strong Biomarker [29]
CLN5 OTY265P6 Strong Biomarker [81]
CTC1 OTRJY7QD Strong Biomarker [82]
CYFIP1 OTOBEH24 Strong Biomarker [83]
CYFIP2 OTCAY35T Strong Biomarker [83]
DLX1 OT7BH057 Strong Biomarker [84]
DLX2 OTKC2DQ0 Strong Altered Expression [84]
DSCAM OTL7PRMK Strong Altered Expression [85]
EFHD2 OTM9VMN3 Strong Biomarker [86]
EIF2B1 OT4NCVY1 Strong Genetic Variation [87]
EIF2B2 OTQQMHM1 Strong Genetic Variation [87]
EIF2B4 OTTM5SX1 Strong Genetic Variation [87]
EIF2S2 OTXF0B09 Strong Genetic Variation [87]
FUT8 OTJJCVG1 Strong Biomarker [88]
GCHFR OTEOT8GI Strong Biomarker [29]
IBTK OTB2GM4G Strong Biomarker [89]
ILF2 OTWWVM9X Strong Biomarker [90]
KDM4B OT5P1UPY Strong Biomarker [91]
KIRREL2 OTSLTR4Y Strong Altered Expression [92]
LAMC3 OTKNAYJO Strong Biomarker [93]
LAT OTZC1XZ1 Strong Genetic Variation [94]
LRRC4C OT5QI5EP Strong Biomarker [95]
LRSAM1 OTOKWR6C Strong Biomarker [96]
MPEG1 OT7DAO0F Strong Genetic Variation [97]
NALCN OTWY7DS0 Strong Biomarker [98]
NCAM2 OT8LBJN8 Strong Altered Expression [99]
NCAN OT8OO6ZE Strong Biomarker [100]
NDN OTYBYJ82 Strong Altered Expression [101]
NLGN3 OTKDEC1Q Strong Genetic Variation [102]
NLGN4X OTDJGBK8 Strong Biomarker [102]
NOS1AP OTDFOBRU Strong Biomarker [103]
NRF1 OTOXWNV8 Strong Biomarker [104]
NRXN1 OTJN1JQA Strong Genetic Variation [105]
NUBP1 OTE8RAKZ Strong Biomarker [30]
OPN4 OT1LZ7TS Strong Biomarker [106]
ORM2 OTRJGZP8 Strong Biomarker [107]
PCDH19 OTSOW3MV Strong Genetic Variation [108]
PDCD10 OTCHJTSF Strong Genetic Variation [109]
PIK3R2 OTZSUQK5 Strong Genetic Variation [110]
POMT1 OTGQSHL5 Strong Altered Expression [111]
PRRX2 OT8UR4AU Strong Biomarker [112]
RPP25 OTEN6QN7 Strong Biomarker [113]
RPS27 OTFXKY7P Strong Genetic Variation [97]
SARS1 OTFKXQ1O Strong Biomarker [114]
SARS2 OTU4T99W Strong Biomarker [114]
SERPINI1 OTUJHIJW Strong Genetic Variation [109]
SPAST OTIF3AJI Strong Genetic Variation [115]
SRCIN1 OTQZNQQ5 Strong Altered Expression [116]
SRPX2 OT6A63TX Strong Genetic Variation [117]
SYNGAP1 OT41HVYQ Strong Biomarker [118]
TAAR6 OTUBUJ2N Strong Biomarker [119]
TAFA1 OT1V0THS Strong Biomarker [120]
TAS1R3 OTOVM44D Strong Biomarker [58]
TMEM106B OTUWA6NW Strong Genetic Variation [121]
TREX1 OTQG7K12 Strong Genetic Variation [122]
TRIOBP OTGB5WHC Strong Genetic Variation [123]
TSC1 OTFF4YZ7 Strong Biomarker [74]
RNASET2 OTWY64L7 Definitive Biomarker [124]
STAMBP OTOT2OXM Definitive Biomarker [125]
TSPOAP1 OTAM8SGF Definitive Biomarker [126]
------------------------------------------------------------------------------------
⏷ Show the Full List of 74 DOT(s)

References

1 Dacarbazine FDA Label
2 Dasatinib FDA Label
3 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
4 Temozolomide FDA Label
5 ClinicalTrials.gov (NCT00655057) Effects of Antidepressant Therapy on Brain Dopamine Transporter Activity in People With Major Depression. U.S. National Institutes of Health.
6 ClinicalTrials.gov (NCT02513589) Molecular Imaging of Inflammation With 18F-PBR06 to Identify Unstable Carotid Plaques in Patients With Stroke.
7 ClinicalTrials.gov (NCT01009359) Evaluation of the Neuroinflammation Pattern of BAY85-8102 F-18, DPA-714 in Probable Alzheimers Disease Patients Versus Healthy Volunteers and Radiation Dosimetry of F18, DPA-714 in Healthy Volunteers. U.S. National Institutes of Health.
8 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
9 Evaluating risk factors for the development of ifosfamide encephalopathy.Am J Clin Oncol. 2005 Jun;28(3):277-80. doi: 10.1097/01.coc.0000158439.02724.5a.
10 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.Neurol Genet. 2016 Aug 22;2(5):e96. doi: 10.1212/NXG.0000000000000096. eCollection 2016 Oct.
11 Resveratrol confers protection against rotenone-induced neurotoxicity by modulating myeloperoxidase levels in glial cells.PLoS One. 2013 Apr 8;8(4):e60654. doi: 10.1371/journal.pone.0060654. Print 2013.
12 The 8-oxoguanine DNA glycosylase 1 (ogg1) decreases the vulnerability of the developing brain to DNA damage.DNA Repair (Amst). 2013 Dec;12(12):1094-104. doi: 10.1016/j.dnarep.2013.08.018. Epub 2013 Sep 25.
13 Long-term treatment of girls with ornithine transcarbamylase deficiency.N Engl J Med. 1996 Sep 19;335(12):855-9. doi: 10.1056/NEJM199609193351204.
14 EAAC1 gene deletion alters zinc homeostasis and enhances cortical neuronal injury after transient cerebral ischemia in mice.J Trace Elem Med Biol. 2012 Jun;26(2-3):85-8. doi: 10.1016/j.jtemb.2012.04.010. Epub 2012 May 8.
15 Molecular basis of the dominant negative effect of a glycine transporter 2 mutation associated with hyperekplexia.J Biol Chem. 2015 Jan 23;290(4):2150-65. doi: 10.1074/jbc.M114.587055. Epub 2014 Dec 5.
16 Long-term gene expression and phenotypic correction using adeno-associated virus vectors in the mammalian brain.Nat Genet. 1994 Oct;8(2):148-54. doi: 10.1038/ng1094-148.
17 Genetic polymorphisms associated with 5-Fluorouracil-induced neurotoxicity.Chemotherapy. 2010;56(4):313-7. doi: 10.1159/000320032. Epub 2010 Aug 13.
18 Tale of the Good and the Bad Cdk5: Remodeling of the Actin Cytoskeleton in the Brain.Mol Neurobiol. 2018 Apr;55(4):3426-3438. doi: 10.1007/s12035-017-0525-3. Epub 2017 May 13.
19 Chronic Fluoxetine Treatment Induces Maturation-Compatible Changes in the Dendritic Arbor and in Synaptic Responses in the Auditory Cortex.Front Pharmacol. 2019 Jul 17;10:804. doi: 10.3389/fphar.2019.00804. eCollection 2019.
20 GLAST But Not Least--Distribution, Function, Genetics and Epigenetics of L-Glutamate Transport in Brain--Focus on GLAST/EAAT1.Neurochem Res. 2015 Dec;40(12):2461-72. doi: 10.1007/s11064-015-1605-2. Epub 2015 May 14.
21 Analysis of Differential Expression of Synaptic Vesicle Protein 2A in the Adult Rat Brain.Neuroscience. 2019 Nov 1;419:108-120. doi: 10.1016/j.neuroscience.2019.09.004. Epub 2019 Sep 12.
22 Evaluation of the novel TSPO radiotracer 2-(7-butyl-2-(4-(2-([(18)F]fluoroethoxy)phenyl)-5-methylpyrazolo[1,5-a]pyrimidin-3-yl)-N,N-diethylacetamide in a preclinical model of neuroinflammation.Eur J Med Chem. 2018 Apr 25;150:1-8. doi: 10.1016/j.ejmech.2018.02.076. Epub 2018 Feb 24.
23 Host genetic and epigenetic factors in toxoplasmosis.Mem Inst Oswaldo Cruz. 2009 Mar;104(2):162-9. doi: 10.1590/s0074-02762009000200006.
24 ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.Ageing Res Rev. 2015 Nov;24(Pt B):111-25. doi: 10.1016/j.arr.2015.07.007. Epub 2015 Jul 28.
25 A disintegrin and metalloproteinase with thrombospondin motifs 2 cleaves and inactivates Reelin in the postnatal cerebral cortex and hippocampus, but not in the cerebellum.Mol Cell Neurosci. 2019 Oct;100:103401. doi: 10.1016/j.mcn.2019.103401. Epub 2019 Sep 3.
26 3-Aminophthalhydrazide (Luminol) As a Matrix for Dual-Polarity MALDI MS Imaging.Anal Chem. 2019 Jul 2;91(13):8221-8228. doi: 10.1021/acs.analchem.9b00803. Epub 2019 Jun 12.
27 Functional analysis of juxta- and intra-membrane domains of murine APP by genome editing in Neuro2a cells.Biochem Biophys Res Commun. 2018 Jul 2;501(4):1023-1028. doi: 10.1016/j.bbrc.2018.05.102. Epub 2018 May 23.
28 Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease.Acta Neuropathol Commun. 2018 Jul 20;6(1):63. doi: 10.1186/s40478-018-0564-7.
29 Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease.Neurobiol Aging. 2005 Aug-Sep;26(8):1145-51. doi: 10.1016/j.neurobiolaging.2004.10.003. Epub 2004 Dec 22.
30 Protective Effects of L-3-n-Butylphthalide Against H(2)O(2)-Induced Injury in Neural Stem Cells by Activation of PI3K/Akt and Mash1 Pathway.Neuroscience. 2018 Nov 21;393:164-174. doi: 10.1016/j.neuroscience.2018.10.003. Epub 2018 Oct 12.
31 Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases.Neurotherapeutics. 2019 Jul;16(3):635-648. doi: 10.1007/s13311-019-00731-6.
32 PI3K-mTOR-S6K Signaling Mediates Neuronal Viability via Collapsin Response Mediator Protein-2 Expression.Front Mol Neurosci. 2017 Sep 15;10:288. doi: 10.3389/fnmol.2017.00288. eCollection 2017.
33 A multimodal RAGE-specific inhibitor reduces amyloid -mediated brain disorder in a mouse model of Alzheimer disease.J Clin Invest. 2012 Apr;122(4):1377-92. doi: 10.1172/JCI58642. Epub 2012 Mar 12.
34 Intracellular Fibroblast Growth Factor 14: Emerging Risk Factor for Brain Disorders.Front Cell Neurosci. 2017 Apr 19;11:103. doi: 10.3389/fncel.2017.00103. eCollection 2017.
35 Transient increase in CSF GAP-43 concentration after ischemic stroke.BMC Neurol. 2018 Dec 7;18(1):202. doi: 10.1186/s12883-018-1210-5.
36 Insights into GBA Parkinson's disease pathology and therapy with induced pluripotent stem cell model systems.Neurobiol Dis. 2019 Jul;127:1-12. doi: 10.1016/j.nbd.2019.01.023. Epub 2019 Jan 31.
37 Incretin hormones regulate microglia oxidative stress, survival and expression of trophic factors.Eur J Cell Biol. 2017 May;96(3):240-253. doi: 10.1016/j.ejcb.2017.03.004. Epub 2017 Mar 8.
38 GPR17 receptor modulators and their therapeutic implications: review of recent patents.Expert Opin Ther Pat. 2019 Feb;29(2):85-95. doi: 10.1080/13543776.2019.1568990. Epub 2019 Jan 24.
39 A lack of GluN2A-containing NMDA receptors confers a vulnerability to redox dysregulation: Consequences on parvalbumin interneurons, and their perineuronal nets.Neurobiol Dis. 2018 Jan;109(Pt A):64-75. doi: 10.1016/j.nbd.2017.10.006. Epub 2017 Oct 10.
40 Specific activation of mGlu2 induced IGF-1R transactivation in vitro through FAK phosphorylation.Acta Pharmacol Sin. 2019 Apr;40(4):460-467. doi: 10.1038/s41401-018-0033-7. Epub 2018 Jun 26.
41 A Highly Sensitive Sandwich ELISA to Detect CSF Progranulin: A Potential Biomarker for CNS Disorders.J Neuropathol Exp Neurol. 2019 May 1;78(5):406-415. doi: 10.1093/jnen/nlz022.
42 Embryonic Ethanol Exposure Affects the Early Development, Migration, and Location of Hypocretin/Orexin Neurons in Zebrafish.Alcohol Clin Exp Res. 2019 Aug;43(8):1702-1713. doi: 10.1111/acer.14126. Epub 2019 Jul 6.
43 Alterations of Expression of the Serotonin 5-HT4 Receptor in Brain Disorders.Int J Mol Sci. 2018 Nov 13;19(11):3581. doi: 10.3390/ijms19113581.
44 Effect of Trinucleotide Repeats in the Huntington's Gene on Intelligence.EBioMedicine. 2018 May;31:47-53. doi: 10.1016/j.ebiom.2018.03.031. Epub 2018 Mar 30.
45 Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.Int J Mol Sci. 2019 Apr 24;20(8):2014. doi: 10.3390/ijms20082014.
46 Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosis.Genes Immun. 2003 Mar;4(2):147-52. doi: 10.1038/sj.gene.6363946.
47 Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.Hum Genet. 2006 Jan;118(5):559-67. doi: 10.1007/s00439-005-0084-y. Epub 2005 Oct 25.
48 NURR1 Impairment in Multiple Sclerosis.Int J Mol Sci. 2019 Sep 30;20(19):4858. doi: 10.3390/ijms20194858.
49 PET Imaging of the P2X7 Ion Channel with a Novel Tracer [(18)F]JNJ-64413739 in a Rat Model of Neuroinflammation.Mol Imaging Biol. 2019 Oct;21(5):871-878. doi: 10.1007/s11307-018-01313-2.
50 Phosphodiesterase 9A in Brain Regulates cGMP Signaling Independent of Nitric-Oxide.Front Neurosci. 2019 Aug 23;13:837. doi: 10.3389/fnins.2019.00837. eCollection 2019.
51 Author Correction: FGL2 promotes tumor progression in the CNS by suppressing CD103(+) dendritic cell differentiation.Nat Commun. 2019 Feb 15;10(1):862. doi: 10.1038/s41467-019-08770-5.
52 Mechanism of Action of Prolyl Oligopeptidase (PREP) in Degenerative Brain Diseases: Has Peptidase Activity Only a Modulatory Role on the Interactions of PREP with Proteins?.Front Aging Neurosci. 2017 Feb 14;9:27. doi: 10.3389/fnagi.2017.00027. eCollection 2017.
53 Genetic variation is associated with RTN4R expression and working memory processing in healthy humans.Brain Res Bull. 2017 Sep;134:162-167. doi: 10.1016/j.brainresbull.2017.07.015. Epub 2017 Jul 26.
54 Streptozotocin causes acute responses on hippocampal S100B and BDNF proteins linked to glucose metabolism alterations.Neurochem Int. 2019 Sep;128:85-93. doi: 10.1016/j.neuint.2019.04.013. Epub 2019 Apr 20.
55 Anti-oxidative effects of 4-hydroxybenzyl alcohol in astrocytes confer protective effects in autocrine and paracrine manners.PLoS One. 2017 May 10;12(5):e0177322. doi: 10.1371/journal.pone.0177322. eCollection 2017.
56 The search for NKCC1-selective drugs for the treatment of epilepsy: Structure-function relationship of bumetanide and various bumetanide derivatives in inhibiting the human cation-chloride cotransporter NKCC1A.Epilepsy Behav. 2016 Jun;59:42-9. doi: 10.1016/j.yebeh.2016.03.021. Epub 2016 Apr 15.
57 Multiple blood-brain barrier transport mechanisms limit bumetanide accumulation, and therapeutic potential, in the mammalian brain.Neuropharmacology. 2017 May 1;117:182-194. doi: 10.1016/j.neuropharm.2017.02.006. Epub 2017 Feb 10.
58 Emerging Concepts in Brain Glucose Metabolic Functions: From Glucose Sensing to How the Sweet Taste of Glucose Regulates Its Own Metabolism in Astrocytes and Neurons.Neuromolecular Med. 2018 Sep;20(3):281-300. doi: 10.1007/s12017-018-8503-0. Epub 2018 Jul 18.
59 Quantum dots reveal heterogeneous membrane diffusivity and dynamic surface density polarization of dopamine transporter.PLoS One. 2019 Nov 21;14(11):e0225339. doi: 10.1371/journal.pone.0225339. eCollection 2019.
60 27-Hydroxycholesterol increases -synuclein protein levels through proteasomal inhibition in human dopaminergic neurons.BMC Neurosci. 2018 Apr 3;19(1):17. doi: 10.1186/s12868-018-0420-5.
61 TDP-43 Neuropathologic Associations in the Nun Study and the Honolulu-Asia Aging Study.J Alzheimers Dis. 2018;66(4):1549-1558. doi: 10.3233/JAD-180162.
62 An LC-MS/MS method for concurrent determination of nicotine metabolites and the role of CYP2A6 in nicotine metabolite-mediated oxidative stress in SVGA astrocytes. Drug Alcohol Depend. 2012 Sep 1;125(1-2):49-59.
63 Regulatory Architecture of the Neuronal Cacng2/Tarp2 Gene Promoter: Multiple Repressive Domains, a Polymorphic Regulatory Short Tandem Repeat, and Bidirectional Organization with Co-regulated lncRNAs.J Mol Neurosci. 2019 Feb;67(2):282-294. doi: 10.1007/s12031-018-1208-x. Epub 2018 Nov 26.
64 The Knockdown of TREK-1 in Hippocampal Neurons Attenuate Lipopolysaccharide-Induced Depressive-Like Behavior in Mice.Int J Mol Sci. 2019 Nov 24;20(23):5902. doi: 10.3390/ijms20235902.
65 Azosemide is more potent than bumetanide and various other loop diuretics to inhibit the sodium-potassium-chloride-cotransporter human variants hNKCC1A and hNKCC1B. Sci Rep. 2018 Jun 29;8(1):9877. doi: 10.1038/s41598-018-27995-w.
66 ZnT3 expression levels are down-regulated in the brain of Mcoln1 knockout mice.Mol Brain. 2019 Mar 26;12(1):24. doi: 10.1186/s13041-019-0446-3.
67 Emerging roles of Na?H?exchangers in epilepsy and developmental brain disorders.Prog Neurobiol. 2016 Mar-May;138-140:19-35. doi: 10.1016/j.pneurobio.2016.02.002. Epub 2016 Mar 8.
68 Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency. J Clin Invest. 1996 Aug 15;98(4):1021-7. doi: 10.1172/JCI118862.
69 The crystal structure of human GlnRS provides basis for the development of neurological disorders.Nucleic Acids Res. 2016 Apr 20;44(7):3420-31. doi: 10.1093/nar/gkw082. Epub 2016 Feb 10.
70 Ceruloplasmin alters the tissue disposition and neurotoxicity of manganese, but not its loading onto transferrin.Toxicol Sci. 2009 Jan;107(1):182-93. doi: 10.1093/toxsci/kfn231. Epub 2008 Nov 12.
71 Neuronal Splicing Regulator RBFOX3 (NeuN) Regulates Adult Hippocampal Neurogenesis and Synaptogenesis.PLoS One. 2016 Oct 4;11(10):e0164164. doi: 10.1371/journal.pone.0164164. eCollection 2016.
72 COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.Mol Biol Cell. 2013 Mar;24(6):683-91. doi: 10.1091/mbc.E12-09-0705. Epub 2013 Jan 23.
73 Matrix metalloproteinases inhibition provides neuroprotection against hypoxia-ischemia in the developing brain.J Neurochem. 2009 Nov;111(3):726-36. doi: 10.1111/j.1471-4159.2009.06362.x. Epub 2009 Aug 27.
74 Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.Hum Mol Genet. 2011 Feb 1;20(3):445-54. doi: 10.1093/hmg/ddq491. Epub 2010 Nov 9.
75 Aquaporin-4 Surface Trafficking Regulates Astrocytic Process Motility and Synaptic Activity in Health and Autoimmune Disease.Cell Rep. 2019 Jun 25;27(13):3860-3872.e4. doi: 10.1016/j.celrep.2019.05.097.
76 S100 proteins: Diagnostic and prognostic biomarkers in laboratory medicine.Biochim Biophys Acta Mol Cell Res. 2019 Jul;1866(7):1197-1206. doi: 10.1016/j.bbamcr.2018.10.015. Epub 2018 Oct 28.
77 DISC1: a key lead in studying cortical development and associated brain disorders.Neuroscientist. 2013 Oct;19(5):451-64. doi: 10.1177/1073858412470168. Epub 2013 Jan 8.
78 ABC Transporters in Neurological Disorders: An Important Gateway for Botanical Compounds Mediated Neuro-Therapeutics.Curr Top Med Chem. 2019;19(10):795-811. doi: 10.2174/1568026619666190412121811.
79 Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons. Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25.
80 Cleave but not leave: Astrotactin proteins in development and disease.IUBMB Life. 2017 Aug;69(8):572-577. doi: 10.1002/iub.1641. Epub 2017 May 18.
81 Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein.Hum Mol Genet. 2002 Apr 15;11(8):885-91. doi: 10.1093/hmg/11.8.885.
82 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084.
83 Neuronal function and dysfunction of CYFIP2: from actin dynamics to early infantile epileptic encephalopathy.BMB Rep. 2019 May;52(5):304-311. doi: 10.5483/BMBRep.2019.52.5.097.
84 GABAergic Interneuron Differentiation in the Basal Forebrain Is Mediated through Direct Regulation of Glutamic Acid Decarboxylase Isoforms by Dlx Homeobox Transcription Factors.J Neurosci. 2017 Sep 6;37(36):8816-8829. doi: 10.1523/JNEUROSCI.2125-16.2017. Epub 2017 Aug 8.
85 Dysregulated Dscam levels act through Abelson tyrosine kinase to enlarge presynaptic arbors.Elife. 2015 May 19;4:e05196. doi: 10.7554/eLife.05196.
86 Swiprosin-1/ EFhd2: from Immune Regulator to Personality and Brain Disorders.Neurosignals. 2019;27(S1):1-19. doi: 10.33594/000000179.
87 Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity.Mol Cell Biol. 2004 Mar;24(6):2352-63. doi: 10.1128/MCB.24.6.2352-2363.2004.
88 Deficiency of 1,6-fucosyltransferase promotes neuroinflammation by increasing the sensitivity of glial cells to inflammatory mediators.Biochim Biophys Acta Gen Subj. 2019 Mar;1863(3):598-608. doi: 10.1016/j.bbagen.2018.12.008. Epub 2018 Dec 17.
89 Highly selective inhibition of Bruton's tyrosine kinase attenuates skin and brain disease in murine lupus.Arthritis Res Ther. 2018 Jan 25;20(1):10. doi: 10.1186/s13075-017-1500-0.
90 Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation.Am J Hum Genet. 2016 May 5;98(5):934-955. doi: 10.1016/j.ajhg.2016.03.027.
91 KDM4B histone demethylase and G9a regulate expression of vascular adhesion proteins in cerebral microvessels.Sci Rep. 2017 Mar 22;7:45005. doi: 10.1038/srep45005.
92 Regulation of hippocampal long term depression by Neuroligin 1.Neuropharmacology. 2018 Dec;143:205-216. doi: 10.1016/j.neuropharm.2018.09.035. Epub 2018 Sep 26.
93 Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet. 2011 Jun;43(6):590-4. doi: 10.1038/ng.836. Epub 2011 May 15.
94 l-Type amino acid transporter 1 activity of 1,2,3-triazolyl analogs of l-histidine and l-tryptophan. Bioorg Med Chem Lett. 2019 Aug 15; 29(16):2254-2258.
95 NGL-1/LRRC4C-Mutant Mice Display Hyperactivity and Anxiolytic-Like Behavior Associated With Widespread Suppression of Neuronal Activity.Front Mol Neurosci. 2019 Oct 11;12:250. doi: 10.3389/fnmol.2019.00250. eCollection 2019.
96 LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases.Cell Mol Life Sci. 2019 Jun;76(11):2093-2110. doi: 10.1007/s00018-019-03055-y. Epub 2019 Mar 2.
97 Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I.Mol Genet Metab. 2012 May;106(1):68-72. doi: 10.1016/j.ymgme.2012.02.003. Epub 2012 Feb 8.
98 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17.
99 Neural Cell Adhesion Molecule 2 (NCAM2)-Induced c-Src-Dependent Propagation of Submembrane Ca2+ Spikes Along Dendrites Inhibits Synapse Maturation.Cereb Cortex. 2019 Apr 1;29(4):1439-1459. doi: 10.1093/cercor/bhy041.
100 Chondroitin sulfate proteoglycans: structure-function relationship with implication in neural development and brain disorders.Biomed Res Int. 2014;2014:642798. doi: 10.1155/2014/642798. Epub 2014 May 14.
101 The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse.Hum Mol Genet. 1997 Oct;6(11):1873-8. doi: 10.1093/hmg/6.11.1873.
102 Trafficking of cholinesterases and neuroligins mutant proteins. An association with autism.Chem Biol Interact. 2008 Sep 25;175(1-3):349-51. doi: 10.1016/j.cbi.2008.04.023. Epub 2008 Apr 29.
103 Research progress in NOS1AP in neurological and psychiatric diseases.Brain Res Bull. 2016 Jul;125:99-105. doi: 10.1016/j.brainresbull.2016.05.014. Epub 2016 May 26.
104 Estrogenic Endocrine Disrupting Chemicals Influencing NRF1 Regulated Gene Networks in the Development of Complex Human Brain Diseases.Int J Mol Sci. 2016 Dec 13;17(12):2086. doi: 10.3390/ijms17122086.
105 Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):354-8. doi: 10.1002/ajmg.b.32036. Epub 2012 Feb 15.
106 Retinal Architecture and Melanopsin-Mediated Pupillary Response Characteristics: A Putative Pathophysiologic Signature for the Retino-Hypothalamic Tract in Multiple Sclerosis.JAMA Neurol. 2017 May 1;74(5):574-582. doi: 10.1001/jamaneurol.2016.5131.
107 Astrocytic Orosomucoid-2 Modulates Microglial Activation and Neuroinflammation.J Neurosci. 2017 Mar 15;37(11):2878-2894. doi: 10.1523/JNEUROSCI.2534-16.2017. Epub 2017 Feb 13.
108 Autism-like behaviors in male mice with a Pcdh19 deletion.Mol Brain. 2019 Nov 20;12(1):95. doi: 10.1186/s13041-019-0519-3.
109 c-Myc regulates the coordinated transcription of brain disease-related PDCD10-SERPINI1 bidirectional gene pair.Mol Cell Neurosci. 2009 Sep;42(1):23-32. doi: 10.1016/j.mcn.2009.05.001. Epub 2009 May 13.
110 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.
111 Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.Neuropathology. 2009 Apr;29(2):116-24. doi: 10.1111/j.1440-1789.2008.00954.x. Epub 2008 Jul 20.
112 Neuroprotective effect of PEP-1-peroxiredoxin2 on CA1 regions in the hippocampus against ischemic insult.Biochim Biophys Acta. 2014 Jul;1840(7):2321-30. doi: 10.1016/j.bbagen.2014.03.003. Epub 2014 Mar 12.
113 RPP25 is developmentally regulated in prefrontal cortex and expressed at decreased levels in autism spectrum disorder.Autism Res. 2010 Aug;3(4):153-61. doi: 10.1002/aur.141.
114 Severe acute respiratory syndrome coronavirus infection causes neuronal death in the absence of encephalitis in mice transgenic for human ACE2.J Virol. 2008 Aug;82(15):7264-75. doi: 10.1128/JVI.00737-08. Epub 2008 May 21.
115 Spastin in the human and mouse central nervous system with special reference to its expression in the hippocampus of mouse pilocarpine model of status epilepticus and temporal lobe epilepsy.Neurochem Int. 2006 Dec;49(7):651-64. doi: 10.1016/j.neuint.2006.05.008. Epub 2006 Jul 7.
116 Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Front Mol Neurosci. 2017 Jun 30;10:212. doi: 10.3389/fnmol.2017.00212. eCollection 2017.
117 Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas.BMC Genet. 2007 Oct 18;8:72. doi: 10.1186/1471-2156-8-72.
118 Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders.Mol Cell Neurosci. 2018 Sep;91:140-150. doi: 10.1016/j.mcn.2018.03.008. Epub 2018 Mar 24.
119 Molecular Variants in Human Trace Amine-Associated Receptors and Their Implications in Mental and Metabolic Disorders.Cell Mol Neurobiol. 2020 Mar;40(2):239-255. doi: 10.1007/s10571-019-00743-y. Epub 2019 Oct 23.
120 FAM19A1 is a new ligand for GPR1 that modulates neural stem-cell proliferation and differentiation.FASEB J. 2018 May 25:fj201800020RRR. doi: 10.1096/fj.201800020RRR. Online ahead of print.
121 Differential Aging Analysis in Human Cerebral Cortex Identifies Variants in TMEM106B and GRN that Regulate Aging Phenotypes.Cell Syst. 2017 Apr 26;4(4):404-415.e5. doi: 10.1016/j.cels.2017.02.009. Epub 2017 Mar 18.
122 The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering.J Biol Chem. 2007 Apr 6;282(14):10537-43. doi: 10.1074/jbc.M700039200. Epub 2007 Feb 9.
123 Emerging roles of TRIO and F-actin-binding protein in human diseases.Cell Commun Signal. 2018 Jun 11;16(1):29. doi: 10.1186/s12964-018-0237-y.
124 RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14.
125 Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May;45(5):556-62. doi: 10.1038/ng.2602. Epub 2013 Mar 31.
126 A genetic variant near adaptor-related protein complex 2 alpha 2 subunit gene is associated with coronary artery disease in a Chinese population.BMC Cardiovasc Disord. 2018 Aug 7;18(1):161. doi: 10.1186/s12872-018-0905-2.