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Article

ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype.

Human genetics - 1 Oct 2021

Lerner Shaul, Eilam Raya, Adler Lital, Baruteau Julien, Kreiser Topaz, Tsoory Michael, Brandis Alexander, Mehlman Tevie, Ryten Mina, Botia Juan A, Ruiz Sonia Garcia, Garcia Alejandro Cisterna, Dionisi-Vici Carlo, Ranucci Giusy, Spada Marco, Mazkereth Ram, McCarter Robert, Izem Rima, Balmat Thomas J, Richesson Rachel, Gazit Ehud, Nagamani Sandesh C S, Erez Ayelet

Abstract excerpt

Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine hydroxylase (TH) and thus for catecholamine production. Using a conditional mouse model with loss of ASL in catecholamine neurons, we demonstrate that ASL is expressed in dopaminergic neurons in the substantia nigra pars compacta, including the ALDH1A1+ subpopulation that is pivotal for the pathogenesis of Parkinson disease...

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Identifiers

PMID: 34417872
DOI: 10.1007/s00439-021-02345-5
PMCID: PMC8460544

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