AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder - - GEO DataSets

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AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder

(Submitter supplied) Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acids synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenine and guanine nucleotides. We describe a new early-onset distinct neurodegenerative condition resulting from mutations in the adenosine monophosphate deaminase 2 gene (AMPD2). more...

Organism:: Homo sapiens

Type:: Expression profiling by array

Platform:: GPL13635
18 Samples

Download data: PAIR

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Accession:: GSE46615

ID:: 200046615

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AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodeg...
AMPD2 Regulates GTP Synthesis and is Mutated in a Potentially-Treatable Neurodegenerative Brainstem Disorder
Accession: GSE46615

GEO DataSets
"disease state"[All Fields] AND "Homo Sapiens"[porgn] AND ("Ponto... (1)
"disease state"[All Fields] AND "Homo Sapiens"[porgn] AND ("Pontocerebellar Hypoplasia"[MeSH Terms] OR "Pontocerebellar Hypoplasia"[All Fields]) AND ("gds"[Filter] OR "gse"[Filter] OR "gsm"[Filter]) AND ("Expression profiling by array"[Filter] OR Expression profiling by high throughput sequencing[Filter])
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