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Stimulation of the amino acid transporter SLC6A19 by JAK2

✍ Scribed by Shefalee K. Bhavsar; Zohreh Hosseinzadeh; Katja Merches; Shuchen Gu; Stefan Bröer; Florian Lang

Book ID: 116302392
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 562 KB
Volume: 414
Category: Article
ISSN: 0006-291X
DOI: 10.1016/j.bbrc.2011.09.074

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## Abstract Hartnup disorder (OMIM 234500) is an autosomal recessive disorder, which was first described in 1956 as an aminoaciduria of neutral amino acids accompanied by a variety of symptoms, such as a photo‐sensitive skin‐rash and cerebellar ataxia. The disorder is caused by mutations in the neu