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Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblas...

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblas...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c7496b1741b1406ba8c04a056c40302d

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients

About this item

Full title

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients

Publisher

Switzerland: MDPI AG

Journal title

Antioxidants, 2022-04, Vol.11 (5), p.815

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the loss of the upper and lower motor neurons (MNs). About 10% of patients have a family history (familial, fALS); however, most patients seem to develop the sporadic form of the disease (sALS). SOD1 (Cu/Zn superoxide dismutase-1) is the first studied gene amo...

Alternative Titles

Full title

Characterization of the p.L145F and p.S135N Mutations in SOD1: Impact on the Metabolism of Fibroblasts Derived from Amyotrophic Lateral Sclerosis Patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_c7496b1741b1406ba8c04a056c40302d

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c7496b1741b1406ba8c04a056c40302d

Other Identifiers

ISSN

2076-3921

E-ISSN

2076-3921

DOI

10.3390/antiox11050815

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