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

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

Graphical Abstract 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...

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Veröffentlicht in:EMBO molecular medicine 2023-08, Vol.15 (8), p.e16251-n/a
Hauptverfasser: Gál, Anikó, Santos, Janine H, Molnár, Mária Judit, Hajnóczky, György
Format: Artikel
Sprache:eng
Schlagworte:
Atrophy
Biomedicine
Cell Cycle Proteins - genetics
Cell fusion
Correspondence
Cytoskeletal Proteins - genetics
Fibroblasts
Genotype & phenotype
Humans
Mitochondria
Molecular Medicine
Mutation
Optic Atrophies, Hereditary
Optic atrophy
Patients
Pedigree
Phenotypes
Proteins
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Beschreibung
Zusammenfassung:Graphical Abstract 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.
ISSN:1757-4676
1757-4684
DOI:10.15252/emmm.202216251