AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

doi:10.1016/j.cell.2013.07.005

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Article

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Cell - 1 Aug 2013

Akizu Naiara, Cantagrel Vincent, Schroth Jana, Cai Na, Vaux Keith, McCloskey Douglas, Naviaux Robert K, Van Vleet Jeremy, Fenstermaker Ali G, Silhavy Jennifer L, Scheliga Judith S, Toyama Keiko, Morisaki Hiroko, Sonmez Fatma M, Celep Figen, Oraby Azza, Zaki Maha S, Al-Baradie Raidah, Faqeih Eissa A, Saleh Mohammed A M, Spencer Emily, Rosti Rasim Ozgur, Scott Eric, Nickerson Elizabeth, Gabriel Stacey, Morisaki Takayuki, Holmes Edward W, Gleeson Joseph G

Abstract excerpt

Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acid synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenosine and guanine nucleotides. We describe a distinct early-onset neurodegenerative condition resulting from mutations in the adenosine monophosphate deaminase 2 gene...

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Identifiers

PMID: 23911318
DOI: 10.1016/j.cell.2013.07.005
PMCID: PMC3815927

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AMPD2

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