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Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiol...

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiol...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b1ca7cf5a3bf491fa878e1fbd2e968be

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5

About this item

Full title

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5

Publisher

Switzerland: Frontiers Research Foundation

Journal title

Frontiers in molecular neuroscience, 2025-02, Vol.18, p.1548255

Language

English

Formats

Publication information

Publisher

Switzerland: Frontiers Research Foundation

More information

Scope and Contents

Contents

Mitochondrial integrity is fundamental to cellular function, upheld by a network of proteases that regulate proteostasis and mitochondrial dynamics. Among these proteases, AFG3L2 is critical due to its roles in maintaining mitochondrial homeostasis, regulating mitochondrial protein quality, and facilitating mitochondrial biogenesis. Mutations in AF...

Alternative Titles

Full title

Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_b1ca7cf5a3bf491fa878e1fbd2e968be

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b1ca7cf5a3bf491fa878e1fbd2e968be

Other Identifiers

ISSN

1662-5099

E-ISSN

1662-5099

DOI

10.3389/fnmol.2025.1548255

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