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Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.
- Published in:
- Molecular Human Reproduction, 2004, v. 10, n. 8, p. 621, doi. 10.1093/molehr/gah085
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- Publication type:
- Article
Prospect of preimplantation genetic diagnosis for heritable mitochondrial DNA diseases.
- Published in:
- Molecular Human Reproduction, 2003, v. 9, n. 10, p. 631, doi. 10.1093/molehr/gag077
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- Publication type:
- Article
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 9, p. 1019, doi. 10.15252/emmm.201506159
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- Publication type:
- Article
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
- Published in:
- 2016
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- Publication type:
- Case Study
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
- Published in:
- 2005
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- Publication type:
- journal article
Mutations in ABCD4 cause a new inborn error of vitamin B<sub>12</sub> metabolism.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1152, doi. 10.1038/ng.2386
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- Publication type:
- Article
Reply to “Reassessing evidence for a postnatal mitochondrial genetic bottleneck”.
- Published in:
- 2010
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- Publication type:
- Letter
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
- Published in:
- Nature Genetics, 2009, v. 41, n. 7, p. 833, doi. 10.1038/ng.390
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- Publication type:
- Article
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes.
- Published in:
- Nature Genetics, 2008, v. 40, n. 12, p. 1484, doi. 10.1038/ng.258
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- Publication type:
- Article
Reactive oxygen species and the segregation of mtDNA sequence variants.
- Published in:
- 2007
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- Publication type:
- Letter
Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
- Published in:
- 2006
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- Publication type:
- Correction Notice
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
- Published in:
- Nature Genetics, 2006, v. 38, n. 1, p. 93, doi. 10.1038/ng1683
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- Publication type:
- Article
Nuclear genetic control of mitochondrial DNA segregation.
- Published in:
- Nature Genetics, 2003, v. 33, n. 2, p. 183, doi. 10.1038/ng1073
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- Publication type:
- Article
The ABcs of mitochondrial transcription.
- Published in:
- Nature Genetics, 2002, v. 31, n. 3, p. 227, doi. 10.1038/ng0702-227
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- Publication type:
- Article
A debut for mito-mouse.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 132, doi. 10.1038/79832
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- Publication type:
- Article
<sup>1</sup>H NMR characterization of normal human cerebrospinal fluid and the detection of methylmalonic acid in a vitamin B<sub>12</sub> deficient patient.
- Published in:
- NMR in Biomedicine, 1991, v. 4, n. 4, p. 192, doi. 10.1002/nbm.1940040407
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- Publication type:
- Article
Reconstitution of Mitochondria Derived Vesicle Formation Demonstrates Selective Enrichment of Oxidized Cargo.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0052830
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- Publication type:
- Article
A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.
- Published in:
- EMBO Reports, 2017, v. 18, n. 1, p. 28, doi. 10.15252/embr.201643391
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- Publication type:
- Article
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
- Published in:
- Human Genetics, 2015, v. 134, n. 9, p. 981, doi. 10.1007/s00439-015-1577-y
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- Publication type:
- Article
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
- Published in:
- Human Genetics, 2000, v. 106, n. 2, p. 194, doi. 10.1007/s004390051028
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- Publication type:
- Article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
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- Publication type:
- Article
Developmental biology: Asexual healing.
- Published in:
- Nature, 2009, v. 461, n. 7262, p. 354, doi. 10.1038/461354a
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- Publication type:
- Article
ESYT1 tethers the ER to mitochondria and is required for mitochondrial lipid and calcium homeostasis.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 1, p. 1, doi. 10.26508/lsa.202302335
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- Publication type:
- Article
The role of the mitochondrial outer membrane protein SLC25A46 in mitochondrial fission and fusion.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 6, p. 1, doi. 10.26508/lsa.202301914
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- Publication type:
- Article
Serine palmitoyltransferase assembles at ER--mitochondria contact sites.
- Published in:
- Life Science Alliance, 2022, v. 5, n. 2, p. 1, doi. 10.26508/lsa.202101278
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- Publication type:
- Article
Mitochondrial biogenesis: which part of 'NO' do we understand?
- Published in:
- BioEssays, 2003, v. 25, n. 6, p. 538, doi. 10.1002/bies.10298
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- Publication type:
- Article
Mitochondrial genetics and human disease.
- Published in:
- BioEssays, 1996, v. 18, n. 12, p. 983, doi. 10.1002/bies.950181208
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- Publication type:
- Article
Mitochondrial molecular genetics and human disease.
- Published in:
- Human Molecular Genetics, 2024, v. 33, p. R1, doi. 10.1093/hmg/ddae049
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- Publication type:
- Article
Mitochondrial DNA segregation in the developing embryo.
- Published in:
- Human Reproduction, 2000, v. 15, n. suppl_2, p. 229, doi. 10.1093/humrep/15.suppl_2.229
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- Publication type:
- Article
Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 8, p. 687, doi. 10.1093/hmg/ddab078
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- Publication type:
- Article
Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 1, p. 178, doi. 10.1093/hmg/ddx393
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- Publication type:
- Article
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 16, p. 3186, doi. 10.1093/hmg/ddx202
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- Publication type:
- Article
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 14, p. 4103, doi. 10.1093/hmg/ddv149
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- Publication type:
- Article
The 3' addition of CCA to mitochondrial tRNA<sup>Ser(AGY)</sup> is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2841, doi. 10.1093/hmg/ddv044
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- Publication type:
- Article
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 727, doi. 10.1093/hmg/ddu491
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- Publication type:
- Article
Tissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh Syndrome.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 2, p. 480, doi. 10.1093/hmg/ddu46
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- Publication type:
- Article
The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 19, p. 5159, doi. 10.1093/hmg/ddu239
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- Publication type:
- Article
Early complex I assembly defects result in rapid turnover of the ND1 subunit.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3815, doi. 10.1093/hmg/dds209
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- Publication type:
- Article
The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 23, p. 4634, doi. 10.1093/hmg/ddr397
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- Publication type:
- Article
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.
- Published in:
- PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
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- Publication type:
- Article
The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 16, p. 9710, doi. 10.1093/nar/gkae645
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- Publication type:
- Article
BOLA3 and NFU1 link mitoribosome iron–sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. 21, p. 11797, doi. 10.1093/nar/gkad842
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- Publication type:
- Article
Human GTPBP5 (MTG2) fuels mitoribosome large subunit maturation by facilitating 16S rRNA methylation.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 14, p. 7924, doi. 10.1093/nar/gkaa592
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- Publication type:
- Article
RNA modification landscape of the human mitochondrial tRNA<sup>Lys</sup> regulates protein synthesis.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06471-z
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- Publication type:
- Article
Alkalosis monitored by <sup>31</sup>P NMR in a human glioma cell line exposed to the anti-tumor drug 1, 3-bis (2-chloroethyl)-1-nitrosourea.
- Published in:
- Magnetic Resonance in Medicine, 1991, v. 22, n. 2, p. 394, doi. 10.1002/mrm.1910220247
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- Publication type:
- Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
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- Publication type:
- Article
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 976, doi. 10.1002/humu.23037
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- Publication type:
- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
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- Publication type:
- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
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- Publication type:
- Article
Novel Mutations in SCO1 as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1366, doi. 10.1002/humu.22385
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- Publication type:
- Article