Found: 13
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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
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia.
- Published in:
- 2022
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- Publication type:
- journal 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
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
Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 6, p. 1732, doi. 10.1093/brain/awt061
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- Publication type:
- Article
PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins.
- Published in:
- Journal of Cell Biology, 2006, v. 174, n. 1, p. 65, doi. 10.1083/jcb.200511045
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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
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
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
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
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 1, p. 181, doi. 10.1093/hmg/ddp478
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- Publication type:
- Article
Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS‐like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response.
- Published in:
- Developmental Neurobiology (19328451), 2023, v. 83, n. 1, p. 54, doi. 10.1002/dneu.22909
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- Publication type:
- Article