Details of Disease

General Information of Disease (ID: DISKAHA3)

Disease Name Mitochondrial disease
Disease Class 5C53: Inborn energy metabolism error
Disease Hierarchy
DISH7H5I: Human disease
DISKAHA3: Mitochondrial disease
ICD Code
ICD-11
ICD-11: 5C53.Y
ICD-10
ICD-10: E88.49
Disease Identifiers
MONDO ID
MONDO_0044970
MESH ID
D028361
UMLS CUI
C0751651
MedGen ID
155901
Orphanet ID
68380

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 1 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
MitoPBN DM008ZQ Investigative Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 189 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UQCRC2 OTSNY9H4 Moderate Autosomal recessive [2]
TYMP OT6BQTMR Definitive Autosomal recessive [2]
VARS2 OTWXKTL0 Definitive Autosomal recessive [2]
WARS2 OT68H24R Definitive Autosomal recessive [2]
SDHC OTC8G2MX No Known Unknown [2]
APOO OTAHHRGZ Limited X-linked [31]
ATP5F1E OTMPLAIS Limited Genetic Variation [32]
ATPAF2 OTOMEQX6 Limited Autosomal recessive [2]
CHMP1B OTP715L8 Limited Biomarker [33]
CLPP OTEPHG0S Limited Biomarker [34]
COA3 OT4BMIYV Limited Autosomal recessive [2]
COX14 OTQ378WN Limited Autosomal recessive [2]
COX2 OTTMVBJJ Limited Genetic Variation [35]
COX4I2 OTB98B21 Limited Biomarker [36]
FBXL4 OTZECCIQ Limited Biomarker [37]
GFER OTVK43OK Limited CausalMutation [38]
IARS2 OTDX4SCA Limited Biomarker [39]
MICU2 OTZY0PM2 Limited Autosomal recessive [2]
MRPS16 OT3XXKDZ Limited Autosomal recessive [2]
MT-ATP8 OTYQQR53 Limited Mitochondrial [2]
NDUFA11 OTZXD1UK Limited Autosomal recessive [2]
NDUFA8 OTBO0YKI Limited Biomarker [40]
PPA2 OTRKV8WW Limited Genetic Variation [41]
PRPF6 OT3U0ABN Limited Genetic Variation [17]
RNASEH1 OTT7L25X Limited Genetic Variation [42]
SDHD OTYZ8XRH Limited Autosomal recessive [2]
SLC25A10 OTT8647H Limited Autosomal recessive [2]
SLC25A46 OTFEV9SV Limited Genetic Variation [43]
SPG7 OT8OY9ST Limited Genetic Variation [44]
ABCB7 OTDNTHNR Moderate X-linked [2]
ATP5F1A OT3FZDLX Moderate Autosomal recessive [45]
ATP5F1D OTXTAG2V moderate Genetic Variation [46]
CARS2 OTGLZOFP Moderate Autosomal recessive [2]
COX5A OTP0961M moderate Biomarker [47]
COX8A OTU0NR39 moderate Biomarker [47]
CPOX OTIAY121 moderate Biomarker [47]
CYC1 OT0962IM Moderate Autosomal recessive [2]
MIPEP OTB2IHCT Moderate Autosomal recessive [2]
MRPL3 OT4WV1WL Moderate Autosomal recessive [2]
MRPL39 OTN9VRD2 Moderate Autosomal recessive [2]
MRPS2 OTW1XGW7 moderate Biomarker [48]
NARS2 OTL5X535 Moderate Autosomal recessive [49]
NDUFA10 OTBURQ3A Moderate Autosomal recessive [2]
NDUFAF1 OTYK9JU6 Moderate Autosomal recessive [2]
NDUFB10 OTFLILEO Moderate Autosomal recessive [2]
NDUFC2 OT9M119L Moderate Autosomal recessive [2]
NOL3 OT1K0L0D moderate Therapeutic [50]
PARS2 OTMBBH7K Moderate Autosomal recessive [2]
SARS2 OTU4T99W Moderate Autosomal recessive [2]
SDHAF2 OT0UG9H5 moderate Biomarker [16]
SLC25A12 OTB4YBVT Moderate Autosomal recessive [2]
SLC25A3 OTAWGR4K Moderate Autosomal recessive [2]
TOP3A OT3CKUI9 moderate Genetic Variation [51]
TRMT10C OT1L8Q48 Moderate Autosomal recessive [2]
TSFM OTP6OKPJ moderate Biomarker [52]
A1CF OTJBKFA1 Strong Genetic Variation [9]
ACAD9 OT4HITJ6 Strong Genetic Variation [53]
ACOX1 OTM0A0DY Strong Altered Expression [54]
ACTC1 OTJU04B1 Strong Genetic Variation [11]
AFG3L2 OTRPMAUX Strong Genetic Variation [55]
AIFM1 OTKPWB7Q Strong Genetic Variation [56]
APTX OTPAS5G8 Strong Genetic Variation [57]
BCS1L OT5PY5CY Strong Biomarker [58]
CANT1 OT1TPWQR Strong Genetic Variation [57]
CERS6 OTOP4GV1 Strong Biomarker [59]
CHCHD2 OTL5PA3Y Strong Genetic Variation [60]
COX18 OTIRSG4N Strong Biomarker [61]
CYTB OTAHB98A Strong Genetic Variation [62]
DGUOK OT78HUZB Strong Biomarker [63]
DHX9 OT5AAOQI Strong Biomarker [64]
DNM1L OTXK1Q1G Strong Biomarker [65]
DTNA OTVBIRH2 Strong Genetic Variation [11]
E4F1 OTL5ESAC Strong Biomarker [66]
EHHADH OTBAAHL5 Strong Genetic Variation [22]
FASTK OTTHFZMP Strong Biomarker [67]
FLNC OT3F8J6Y Strong Genetic Variation [68]
GARS1 OT5B6R9Y Strong Genetic Variation [69]
GBE1 OTK2N05B Strong Biomarker [22]
GDAP1 OTQE1O25 Strong Biomarker [70]
GFM1 OTUN4V3N Strong Genetic Variation [71]
HMGCL OTRO9RII Strong Genetic Variation [72]
KARS1 OT0EU4SV Strong Biomarker [45]
LDB3 OTGQL1AM Strong Genetic Variation [11]
LRPPRC OTXSK5LP Strong Biomarker [16]
MB OTYWYL2D Strong Altered Expression [73]
METTL17 OTGGMKXA Strong Genetic Variation [74]
MFF OTEVIXOM Strong Genetic Variation [75]
MFN1 OTCBXQZF Strong Genetic Variation [76]
MFN2 OTPYN8A3 Strong Genetic Variation [76]
MRPS28 OT8CLJ6M Strong Biomarker [77]
MTERF1 OT3EIK39 Strong Biomarker [78]
MYOT OTCEW5XW Strong Biomarker [68]
ND3 OT1OC3K3 Strong Genetic Variation [79]
NDUFA1 OTKBUQXP Strong Biomarker [80]
NDUFA2 OTNSTATK Strong Biomarker [16]
NDUFAF4 OTWJ5B9M Strong Biomarker [16]
NDUFAF5 OTN5V274 Strong Biomarker [16]
NDUFB8 OTW4A4Q0 Strong Biomarker [81]
NDUFS4 OTJKUYEE Strong Genetic Variation [82]
NDUFS8 OTMEAWKO Strong Biomarker [83]
NDUFV1 OTEVK4WW Strong Biomarker [16]
NRF1 OTOXWNV8 Strong Biomarker [84]
NUBPL OTQMCSXT Strong Biomarker [16]
OPN4 OT1LZ7TS Strong Biomarker [85]
OXA1L OTS0BFRD Strong CausalMutation [86]
PDHA1 OTGEU8IK Strong Genetic Variation [87]
PET117 OT76T8O0 Strong Genetic Variation [88]
PLP1 OT8CM9CX Strong Genetic Variation [89]
PNPLA8 OT9V1T5W Strong Genetic Variation [90]
POLG2 OTDBMZJB Strong Biomarker [91]
PPA1 OTHZK1QB Strong Genetic Variation [41]
PPTC7 OTBKUQPI Strong Altered Expression [92]
PSG1 OT1U4ZZW Strong Biomarker [93]
PSG7 OT1IXGBX Strong Biomarker [93]
PSG8 OT00UZBM Strong Biomarker [93]
ROPN1L OTRWZJ68 Strong Genetic Variation [9]
RPTOR OT4TQZ9F Strong Genetic Variation [13]
RRM2B OTE8GBUR Strong Genetic Variation [94]
SARDH OTQ49Q27 Strong Biomarker [18]
SCO2 OTJQQDRS Strong Biomarker [16]
SDHA OTOJ8QFF Strong Genetic Variation [95]
SDS OT5WTJ2M Strong Biomarker [18]
SERAC1 OTWH1ULQ Strong Biomarker [94]
SUPV3L1 OT416O2G Strong Biomarker [96]
SURF1 OTAINRSS Strong Biomarker [16]
TACO1 OTK1WUBL Strong Biomarker [16]
TIMM17A OTVFRL8G Strong Biomarker [97]
TNPO1 OT7W2CM8 Strong Genetic Variation [13]
TTC19 OTQ0QH1P Strong Biomarker [98]
AARS2 OTOB0KSG Definitive Autosomal recessive [2]
AGK OTJGWBYT Definitive Autosomal recessive [2]
C1QBP OTPYQX3K Definitive Autosomal recessive [2]
CHCHD10 OTCDHAM6 Definitive Autosomal dominant [2]
COA8 OTOM9C4A Definitive Autosomal recessive [2]
COQ2 OTDAKEY4 Definitive Autosomal recessive [2]
COQ4 OTIU7FAZ Definitive Autosomal recessive [2]
COQ8B OTBY50BD Definitive Autosomal recessive [2]
COQ9 OTM2T1FI Definitive Autosomal recessive [2]
COX10 OTCYIS0L Definitive Autosomal recessive [2]
COX15 OTUIYHIW Definitive Autosomal recessive [2]
COX20 OTXL7EP2 Definitive Autosomal recessive [2]
COX6B1 OTNKXYQI Definitive Autosomal recessive [2]
DARS2 OTVPFTBG Definitive Autosomal recessive [2]
ELAC2 OTY3BOF6 Definitive Autosomal recessive [2]
FASTKD2 OTD635WX Definitive Autosomal recessive [2]
FOXRED1 OTYEB8YK Definitive Autosomal recessive [2]
GFM2 OT51TIMY Definitive Genetic Variation [99]
IBA57 OT9SPG2X Definitive Autosomal recessive [2]
IDH2 OTTQA4PB Definitive Autosomal dominant [2]
ISCA2 OTKQKNTC Definitive Autosomal recessive [2]
ISCU OTSW6DQP Definitive Autosomal recessive [2]
L2HGDH OTW6C712 Definitive Autosomal recessive [2]
LYRM7 OT9O7UZE Definitive Autosomal recessive [2]
MARS2 OTZDVGVJ Definitive Autosomal recessive [2]
MGME1 OTC5LPXX Definitive Autosomal recessive [2]
MICOS13 OTNNPM61 Definitive Autosomal recessive [2]
MPC1 OT6DYFUO Definitive Autosomal recessive [2]
MPV17 OT579DMU Definitive Autosomal recessive [2]
MRPL44 OT27ZC26 Definitive Autosomal recessive [2]
MRPS22 OTIVNAJL Definitive Autosomal recessive [2]
MSTO1 OT37XCNP Definitive Autosomal recessive [2]
MT-CO1 OTG3O9BN Definitive Mitochondrial [2]
MT-ND1 OTCLGIXV Definitive Mitochondrial [2]
MTO1 OT7HCZ1D Definitive Autosomal recessive [2]
MTPAP OT6HQ02S Definitive Autosomal recessive [2]
NAXD OTPO2GM2 Definitive Autosomal recessive [2]
NDUFAF3 OT4MCB6W Definitive Autosomal recessive [2]
NDUFB11 OTFG5777 Definitive X-linked [2]
NDUFB3 OTDV12IF Definitive Autosomal recessive [2]
NDUFS1 OTTIZDFR Definitive Autosomal recessive [2]
NDUFS6 OT9IOONQ Definitive Autosomal recessive [2]
NDUFV2 OTSZF7D6 Definitive Autosomal recessive [2]
NFU1 OTL58QZS Definitive Autosomal recessive [2]
PMPCA OT5X1G9Q Definitive Autosomal recessive [2]
PUS1 OTS2DQ0N Definitive Autosomal recessive [2]
RARS2 OT3WLAD8 Definitive Autosomal recessive [2]
RMND1 OT7I6RBT Definitive Autosomal recessive [2]
SCO1 OTC45UGB Definitive Autosomal recessive [2]
SDHAF1 OTDG5VW7 Definitive Autosomal recessive [2]
SDHB OTRE1M1T Definitive Autosomal recessive [2]
SFXN4 OT2KLSS9 Definitive Autosomal recessive [2]
SLC25A1 OTIDXQ9F Definitive Autosomal recessive [2]
SLC25A26 OTSF2NXD Definitive Autosomal recessive [2]
SLC25A4 OTKYLK2J Definitive Autosomal recessive [25]
TK2 OTS1V4XB Definitive Autosomal recessive [2]
TMEM126B OT8JJ5TP Definitive Autosomal recessive [2]
TMEM70 OTLTKYXG Definitive Autosomal recessive [2]
TRIT1 OTCU9FS5 Definitive Autosomal recessive [2]
TRMT5 OTOAZBPD Definitive Autosomal recessive [2]
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⏷ Show the Full List of 189 DOT(s)
This Disease Is Related to 22 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C1QBP TTWTD7F Limited Genetic Variation [3]
NDUFA13 TTRU1NG Limited Biomarker [4]
NPTX2 TTNJ5A6 Limited Genetic Variation [5]
PPARGC1B TTKSQ3W Limited Altered Expression [6]
SDHD TTVH9W8 Limited Autosomal recessive [2]
TYMP TTO0IB8 Limited Biomarker [7]
NOS2 TTF10I9 moderate Therapeutic [8]
ASPA TT6TLZP Strong Genetic Variation [9]
CS TTZA6B3 Strong Altered Expression [10]
DMPK TTZQTY2 Strong Genetic Variation [11]
LONP1 TTM1VPZ Strong Genetic Variation [12]
MAPKAP1 TTWDKCL Strong Genetic Variation [13]
MYH7 TTNIMDP Strong Genetic Variation [11]
NDUFAF2 TTCHGVF Strong Biomarker [14]
OTC TT5KIO9 Strong Biomarker [15]
SDHD TTVH9W8 Strong Biomarker [16]
SLC25A4 TTU5A6Q Strong Genetic Variation [17]
SORD TTLSRBZ Strong Biomarker [18]
TFPI TT068JH Strong Biomarker [19]
AGK TTJETQC Definitive Autosomal recessive [2]
C1QBP TTWTD7F Definitive Autosomal recessive [2]
TK2 TT7KNZQ Definitive Autosomal recessive [2]
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⏷ Show the Full List of 22 DTT(s)
This Disease Is Related to 11 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A10 DTJYKDQ Limited Autosomal recessive [2]
SLC25A42 DTU4HKJ Limited Biomarker [20]
ABCB7 DT2IMBW Moderate X-linked [2]
ABCB7 DT2IMBW Strong Biomarker [21]
SLC25A20 DTQOUM4 Strong Biomarker [22]
SLC25A6 DTLMGFJ Strong Biomarker [23]
SLC39A8 DTLPQGT Strong Genetic Variation [24]
SFXN4 DTAOZ7I Definitive Autosomal recessive [2]
SLC25A1 DTWU7OK Definitive Autosomal recessive [2]
SLC25A26 DT8HR5O Definitive Autosomal recessive [2]
SLC25A4 DTPTFKU Definitive Autosomal recessive [25]
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⏷ Show the Full List of 11 DTP(s)
This Disease Is Related to 11 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
FARS2 DE0WGR8 Limited Genetic Variation [26]
FXN DEXVHDB moderate Biomarker [27]
HSD17B10 DEGSPC9 Strong Biomarker [28]
NDUFS2 DEKX5CD Strong Biomarker [16]
NDUFS3 DE741FI Strong Biomarker [16]
NDUFS7 DEIW03B Strong Biomarker [16]
NMNAT2 DE2HB58 Strong Biomarker [29]
WARS2 DEPTKBQ Strong Genetic Variation [30]
MARS2 DEEH5Y9 Definitive Autosomal recessive [2]
TYMP DE4HCYL Definitive Autosomal recessive [2]
WARS2 DEPTKBQ Definitive Autosomal recessive [2]
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⏷ Show the Full List of 11 DME(s)

References

1 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.J Hum Genet. 2019 Feb;64(2):113-125. doi: 10.1038/s10038-018-0528-6. Epub 2018 Nov 21.
4 Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. doi: 10.1093/hmg/ddv133. Epub 2015 Apr 21.
5 Inherited mitochondrial disorders.Adv Exp Med Biol. 2012;942:187-213. doi: 10.1007/978-94-007-2869-1_8.
6 Minimal effects of spargel (PGC-1) overexpression in a Drosophila mitochondrial disease model.Biol Open. 2019 Jul 19;8(7):bio042135. doi: 10.1242/bio.042135.
7 Migraine in mitochondrial disorders: Prevalence and characteristics.Cephalalgia. 2018 May;38(6):1093-1106. doi: 10.1177/0333102417723568. Epub 2017 Aug 1.
8 The protective roles of nitric oxide and superoxide dismutase in adriamycin-induced cardiotoxicity.Cardiovasc Res. 2006 Jan;69(1):186-97. doi: 10.1016/j.cardiores.2005.07.012. Epub 2005 Sep 12.
9 A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.Neuromuscul Disord. 2015 Jan;25(1):81-4. doi: 10.1016/j.nmd.2014.09.008. Epub 2014 Sep 28.
10 The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder.J Clin Med. 2017 Feb 13;6(2):18. doi: 10.3390/jcm6020018.
11 Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.Pediatr Cardiol. 2009 Jul;30(5):659-81. doi: 10.1007/s00246-008-9359-0. Epub 2009 Jan 29.
12 Cell stress management by the mitochondrial LonP1 protease - Insights into mitigating developmental, oncogenic and cardiac stress.Mitochondrion. 2020 Mar;51:46-61. doi: 10.1016/j.mito.2019.10.004. Epub 2019 Nov 19.
13 mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.Hum Mol Genet. 2010 Jun 1;19(11):2123-33. doi: 10.1093/hmg/ddq089. Epub 2010 Feb 25.
14 The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress.Neurobiol Dis. 2013 Oct;58:57-67. doi: 10.1016/j.nbd.2013.05.007. Epub 2013 May 20.
15 Visualization of mitochondria with green fluorescent protein in cultured fibroblasts from patients with mitochondrial diseases.Biochem Biophys Res Commun. 1997 Oct 20;239(2):580-4. doi: 10.1006/bbrc.1997.7448.
16 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
17 The inner mitochondrial membrane protein ANT1 modulates IL-6 expression via the JNK pathway in macrophages.FEBS Lett. 2018 Nov;592(22):3750-3758. doi: 10.1002/1873-3468.13269. Epub 2018 Oct 24.
18 Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.Ann Diagn Pathol. 2017 Aug;29:41-45. doi: 10.1016/j.anndiagpath.2017.02.010. Epub 2017 Apr 28.
19 Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PLoS One. 2019 Mar 28;14(3):e0214250. doi: 10.1371/journal.pone.0214250. eCollection 2019.
20 Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.Clin Genet. 2018 May;93(5):1097-1102. doi: 10.1111/cge.13210. Epub 2018 Mar 25.
21 Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743.
22 Neonatal metabolic myopathies.Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9.
23 Role of adenine nucleotide translocator 1 in mtDNA maintenance.Science. 2000 Aug 4;289(5480):782-5. doi: 10.1126/science.289.5480.782.
24 Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.Sci Rep. 2018 Feb 16;8(1):3163. doi: 10.1038/s41598-018-21464-0.
25 Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20.
26 Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2.Protein Sci. 2017 Aug;26(8):1505-1516. doi: 10.1002/pro.3176. Epub 2017 May 3.
27 Mitochondrial dysfunction in neurons in Friedreich's ataxia.Mol Cell Neurosci. 2020 Jan;102:103419. doi: 10.1016/j.mcn.2019.103419. Epub 2019 Nov 23.
28 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease. Pediatr Res. 2005 Sep;58(3):488-91. doi: 10.1203/01.pdr.0000176916.94328.cd.
29 Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration.Neurobiol Dis. 2020 Feb;134:104678. doi: 10.1016/j.nbd.2019.104678. Epub 2019 Nov 15.
30 Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6.
31 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
32 Infantile mitochondrial disorder associated with subclinical hypothyroidism is caused by a rare mitochondrial DNA 8691A>G mutation: a case report.Neuroreport. 2015 Jul 8;26(10):588-92. doi: 10.1097/WNR.0000000000000392.
33 Defects of mitochondrial DNA replication.J Child Neurol. 2014 Sep;29(9):1216-24. doi: 10.1177/0883073814537380. Epub 2014 Jun 30.
34 CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis.EMBO Rep. 2018 May;19(5):e45126. doi: 10.15252/embr.201745126. Epub 2018 Mar 27.
35 Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.BMC Neurol. 2017 May 18;17(1):96. doi: 10.1186/s12883-017-0883-5.
36 High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.J Hum Genet. 2012 Jul;57(7):442-8. doi: 10.1038/jhg.2012.49. Epub 2012 May 17.
37 FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5.
38 Decreased male reproductive success in association with mitochondrial dysfunction.Eur J Hum Genet. 2017 Oct;25(10):1162-1164. doi: 10.1038/ejhg.2017.114. Epub 2017 Aug 16.
39 Expanding the clinical phenotype of IARS2-related mitochondrial disease.BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.
40 Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta. 2004 Dec 6;1659(2-3):136-47. doi: 10.1016/j.bbabio.2004.09.006.
41 Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.Am J Hum Genet. 2016 Sep 1;99(3):674-682. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11.
42 The Jekyll and Hyde character of RNase H1 and its multiple roles in mitochondrial DNA metabolism.DNA Repair (Amst). 2019 Dec;84:102630. doi: 10.1016/j.dnarep.2019.06.001. Epub 2019 Jun 4.
43 Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway.Exp Cell Res. 2019 Dec 15;385(2):111673. doi: 10.1016/j.yexcr.2019.111673. Epub 2019 Oct 12.
44 Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients.J Neurol Neurosurg Psychiatry. 2017 Apr;88(4):301-309. doi: 10.1136/jnnp-2016-314863. Epub 2016 Dec 13.
45 Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 7;80(19):1762-70. doi: 10.1212/WNL.0b013e3182918c40. Epub 2013 Apr 17.
46 Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. Am J Hum Genet. 2018 Mar 1;102(3):494-504. doi: 10.1016/j.ajhg.2018.01.020. Epub 2018 Feb 22.
47 Disease progression in patients with single, large-scale mitochondrial DNA deletions.Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25.
48 Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22.
49 Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar.
50 ARC is a critical cardiomyocyte survival switch in doxorubicin cardiotoxicity.J Mol Med (Berl). 2009 Apr;87(4):401-10. doi: 10.1007/s00109-008-0434-z. Epub 2009 Jan 13.
51 Topoisomerase 3 Is Required for Decatenation and Segregation of Human mtDNA. Mol Cell. 2018 Jan 4;69(1):9-23.e6. doi: 10.1016/j.molcel.2017.11.033. Epub 2017 Dec 28.
52 Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.Neurogenetics. 2019 Aug;20(3):165-172. doi: 10.1007/s10048-019-00582-5. Epub 2019 Jul 2.
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