Answer to Gerber et al. "Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy".


Journal

EMBO molecular medicine
ISSN: 1757-4684
Titre abrégé: EMBO Mol Med
Pays: England
ID NLM: 101487380

Informations de publication

Date de publication:
07 08 2023
Historique:
revised: 17 05 2023
received: 02 05 2022
accepted: 17 05 2023
medline: 8 8 2023
pubmed: 11 7 2023
entrez: 11 7 2023
Statut: ppublish

Résumé

Gal et al address the issues raised by Gerber et al and reiterate that patients in their study showed decreased Misato homolog 1 (MSTO1) mRNA and protein levels, but also confirm finding of Gerber et al that the mutation is in MSTO2p pseudogene. Whether MSTO2p variant contributes to the observed decrease in MSTO1 levels in patients remains unclear.

Identifiants

pubmed: 37431815
doi: 10.15252/emmm.202216251
pmc: PMC10405052
doi:

Substances chimiques

Cytoskeletal Proteins 0
Cell Cycle Proteins 0
MSTO1 protein, human 0

Types de publication

Letter Comment

Langues

eng

Sous-ensembles de citation

IM

Pagination

e16251

Commentaires et corrections

Type : CommentOn

Informations de copyright

© 2023 The Authors. Published under the terms of the CC BY 4.0 license.

Références

Eur Rev Med Pharmacol Sci. 2019 Apr;23(8):3375-3382
pubmed: 31081092
EMBO Mol Med. 2023 Aug 7;15(8):e16251
pubmed: 37431815
Oncotarget. 2017 Aug 4;8(35):59036-59047
pubmed: 28938616
EMBO Mol Med. 2023 Aug 7;15(8):e16090
pubmed: 37431816
EMBO Mol Med. 2017 Jul;9(7):967-984
pubmed: 28554942
World J Surg Oncol. 2022 Mar 26;20(1):95
pubmed: 35346226

Auteurs

Anikó Gál (A)

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.

Janine H Santos (JH)

Mechanistic Toxicology Branch, Division of the National Toxicology Program (DNTP), National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, NC, USA.

Mária Judit Molnár (MJ)

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.

György Hajnóczky (G)

MitoCare Center for Mitochondrial Imaging Research and Diagnostics, Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA.

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Classifications MeSH