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Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
- Published in:
- Movement Disorders, 2012, v. 27, n. 10, p. 1326, doi. 10.1002/mds.25085
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- Publication type:
- Article
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
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- Movement Disorders, 2006, v. 21, n. 8, p. 1232, doi. 10.1002/mds.20890
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- Publication type:
- Article
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients.
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- Movement Disorders, 2002, v. 17, n. 2, p. 407, doi. 10.1002/mds.10045
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- Publication type:
- Article
Mitochondrial Neurodegeneration.
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- Cells (2073-4409), 2022, v. 11, n. 4, p. 637, doi. 10.3390/cells11040637
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- Publication type:
- Article
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis.
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- Cells (2073-4409), 2021, v. 10, n. 2, p. 369, doi. 10.3390/cells10020369
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- Publication type:
- Article
Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.
- Published in:
- 2018
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- Publication type:
- Case Study
Mitochondrial disorders of the OXPHOS system.
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- FEBS Letters, 2021, v. 595, n. 8, p. 1062, doi. 10.1002/1873-3468.13995
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- Publication type:
- Article
Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 G.
- Published in:
- 2012
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- Publication type:
- Case Study
Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity.
- Published in:
- FASEB Journal, 2013, v. 27, n. 4, p. 1371, doi. 10.1096/fj.12-221879
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- Publication type:
- Article
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.
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- Turkish Journal of Hematology, 2017, v. 34, n. 4, p. 376, doi. 10.4274/tjh.2017.0231
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- Publication type:
- Article
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria.
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- FEBS Journal, 2024, v. 291, n. 12, p. 2565, doi. 10.1111/febs.17114
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- Publication type:
- Article
PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.
- Published in:
- 2017
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- Publication type:
- journal article
Gene Therapy Using a Liver-targeted AAV Vector Restores Nucleoside and Nucleotide Homeostasis in a Murine Model of MNGIE.
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- Molecular Therapy, 2014, v. 22, n. 5, p. 901, doi. 10.1038/mt.2014.6
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- Publication type:
- Article
AAV-mediated Liver-specific MPV17 Expression Restores mtDNA Levels and Prevents Diet-induced Liver Failure.
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- Molecular Therapy, 2014, v. 22, n. 1, p. 10, doi. 10.1038/mt.2013.230
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- Publication type:
- Article
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.
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- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1098, doi. 10.1093/hmg/ddp581
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- Publication type:
- Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
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- Human Molecular Genetics, 2009, v. 18, n. 24, p. 4905, doi. 10.1093/hmg/ddp458
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- Publication type:
- Article
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
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- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1058, doi. 10.1093/hmg/ddn441
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- Publication type:
- Article
Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.
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- Human Molecular Genetics, 2009, v. 18, n. 1, p. 12, doi. 10.1093/hmg/ddn309
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- Publication type:
- Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
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- Human Molecular Genetics, 2008, v. 17, n. 16, p. 2496, doi. 10.1093/hmg/ddn150
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- Publication type:
- Article
Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.
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- Human Molecular Genetics, 2007, v. 16, n. 12, p. 1400, doi. 10.1093/hmg/ddm090
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- Publication type:
- Article
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
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- Human Molecular Genetics, 2007, v. 16, n. 10, p. 1241, doi. 10.1093/hmg/ddm072
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- Publication type:
- Article
Increased longevity and refractoriness to Ca2+-dependent neurodegeneration in Surf1 knockout mice.
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- Human Molecular Genetics, 2007, v. 16, n. 4, p. 431, doi. 10.1093/hmg/ddl477
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- Publication type:
- Article
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.
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- Human Molecular Genetics, 2006, v. 15, n. 19, p. 2846, doi. 10.1093/hmg/ddl219
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- Publication type:
- Article
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
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- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3079, doi. 10.1093/hmg/ddi341
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- Publication type:
- Article
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
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- Human Molecular Genetics, 2004, v. 13, n. 9, p. 923, doi. 10.1093/hmg/ddh108
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- Publication type:
- Article
Mitochondrial disorders.
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- Current Neurology & Neuroscience Reports, 2003, v. 3, n. 5, p. 423, doi. 10.1007/s11910-003-0026-9
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- Publication type:
- Article
Human diseases associated with defects in assembly of OXPHOS complexes.
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- Essays in Biochemistry, 2018, v. 62, n. 3, p. 271, doi. 10.1042/EBC20170099
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- Publication type:
- Article
Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice.
- Published in:
- 2022
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- Publication type:
- journal article
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
- Published in:
- 2021
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- Publication type:
- journal article
Mitochondrial Retinopathies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 210, doi. 10.3390/ijms23010210
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- Publication type:
- Article
Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 586, doi. 10.3390/ijms22020586
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- Publication type:
- Article
Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 3, p. 764, doi. 10.3390/ijms19030764
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Publication type:
- Article
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00412
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- Publication type:
- Article
miR‐181a/b downregulation exerts a protective action on mitochondrial disease models.
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- EMBO Molecular Medicine, 2019, v. 11, n. 5, p. 1, doi. 10.15252/emmm.201708734
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- Publication type:
- Article
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.
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- EMBO Molecular Medicine, 2019, v. 11, n. 5, p. 1, doi. 10.15252/emmm.201809561
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- Publication type:
- Article
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
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- EMBO Molecular Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.15252/emmm.201809582
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- Publication type:
- Article
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.
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- EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201708799
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- Publication type:
- Article
Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions.
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- EMBO Molecular Medicine, 2018, v. 10, n. 10, p. N.PAG, doi. 10.15252/emmm.201708698
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- Publication type:
- Article
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration.
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- EMBO Molecular Medicine, 2016, v. 8, n. 3, p. 176, doi. 10.15252/emmm.201505894
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- Publication type:
- Article
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.
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- EMBO Molecular Medicine, 2015, v. 7, n. 7, p. 918, doi. 10.15252/emmm.201404803
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- Publication type:
- Article
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
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- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 849, doi. 10.15252/emmm.201470060
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- Publication type:
- Article
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
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- EMBO Molecular Medicine, 2014, v. 6, n. 2, p. 169, doi. 10.1002/emmm.201303198
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- Publication type:
- Article
A novel mutation in the mitochondrial tRNA<sup>Pro</sup> gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1092, doi. 10.1038/ejhg.2009.12
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- Publication type:
- Article
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
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- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 26, doi. 10.1038/sj.ejhg.5201250
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- Publication type:
- Article
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
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- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 385, doi. 10.1038/sj.ejhg.5200640
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- Publication type:
- Article
Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals.
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- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 140, doi. 10.1038/sj.ejhg.5200244
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- Publication type:
- Article
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNA<sup>Ser(UCN)</sup> gene.
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- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 45, doi. 10.1038/sj.ejhg.5200247
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- Publication type:
- Article
OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S170, doi. 10.1002/mus.880181433
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- Publication type:
- Article
Effects of thyroid hormones on the biochemical specialization of human muscle fibers.
- Published in:
- 1985
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- Publication type:
- journal article