Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome

The congenital disorder 22q11.2 deletion syndrome (22qDS), characterized by a hemizygous deletion of 1.5–3 Mb on chromosome 22 at locus 11.2, is the most common microdeletion disorder (estimated prevalence of 1 in 4000) and the second risk factor for schizophrenia. Nine of ∼30 genes involved in 22qD...

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Vydáno v:J Biol Chem
Hlavní autoři: Napoli, Eleonora, Tassone, Flora, Wong, Sarah, Angkustsiri, Kathleen, Simon, Tony J., Song, Gyu, Giulivi, Cecilia
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2015
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4645608/
https://ncbi.nlm.nih.gov/pubmed/26221035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M115.672360
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