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

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 dec...

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Autores principales: Gál, Anikó, Santos, Janine H, Molnár, Mária Judit, Hajnóczky, György
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405052/
https://www.ncbi.nlm.nih.gov/pubmed/37431815
http://dx.doi.org/10.15252/emmm.202216251
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author Gál, Anikó
Santos, Janine H
Molnár, Mária Judit
Hajnóczky, György
author_facet Gál, Anikó
Santos, Janine H
Molnár, Mária Judit
Hajnóczky, György
author_sort Gál, Anikó
collection PubMed
description 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.[Image: see text]
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spelling pubmed-104050522023-08-08 Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy” Gál, Anikó Santos, Janine H Molnár, Mária Judit Hajnóczky, György EMBO Mol Med Correspondence 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.[Image: see text] John Wiley and Sons Inc. 2023-07-11 /pmc/articles/PMC10405052/ /pubmed/37431815 http://dx.doi.org/10.15252/emmm.202216251 Text en © 2023 The Authors. Published under the terms of the CC BY 4.0 license https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Correspondence
Gál, Anikó
Santos, Janine H
Molnár, Mária Judit
Hajnóczky, György
Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”
title Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”
title_full Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”
title_fullStr Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”
title_full_unstemmed Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”
title_short Answer to Gerber et al. “Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy”
title_sort answer to gerber et al. “autosomal recessive pathogenic msto1 variants in hereditary optic atrophy”
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10405052/
https://www.ncbi.nlm.nih.gov/pubmed/37431815
http://dx.doi.org/10.15252/emmm.202216251
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