A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia-Reference-Cited by-同舟云学术

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A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia

Published:2024-10 Issue:7 Volume:1870 Page:167330
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Mavillard Fabiola,Guerra-Castellano Alejandra,Guerrero-Gómez David,Rivas Eloy,Cantero Gloria,Servian-Morilla Emilia,Folland Chiara,Ravenscroft Gianina,Martín Miguel A.,Miranda-Vizuete Antonio,Cabrera-Serrano Macarena,Diaz-Moreno Irene,Paradas Carmen

Publisher

Elsevier BV

Reference57 articles.

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2. Respiratory chain supercomplexes of mitochondria and bacteria;Schägger;Biochim. Biophys. Acta Bioenerg.,2002

3. Mimicking tyrosine phosphorylation in human cytochrome c by the evolved tRNA synthetase technique;Guerra-Castellano;Chemistry,2015

4. Insights into the post-transcriptional regulation of the mitochondrial electron transport chain;Sirey;Biochem. Soc. Trans.,2016

5. Regulation of mitochondrial electron transport chain assembly;Cogliati;J. Mol. Biol.,2018

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