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Article

Functional consequences of familial ALS-associated SOD1L84F in neuronal and muscle cells.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 15 Feb 2024

Verma Sagar, Vats Abhishek, Ahuja Vanshika, Vats Kavita, Khurana Shiffali, Vats Yuvraj, Gourie-Devi Mandaville, Wajid Saima, Ganguly Nirmal Kumar, Chakraborti Pradip, Taneja Vibha

Abstract excerpt

Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder characterized by progressive skeletal muscle denervation and loss of motor neurons that results in muscle atrophy and eventual death due to respiratory failure. Previously, we identified a novel SOD1L84F variation in a familial ALS case. In this study, we examined the functional consequences of SOD1L84F overexpression in the mouse motor neuron...

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Source

Identifiers

PMID: 38317639
DOI: 10.1096/fj.202301979R

Genes

FUS
SOD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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