Identifying Unique Protein Alterations Caused by SPTLC1 Mutations in a Transfected Neuronal Cell ModelReportar como inadecuado




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Hereditarysensory neuropathy type I is an autosomal dominant disorder that affects thesensory neurons. Three missense mutations in serine palmitoyltransferase longchain subunit 1 cause hereditary sensory neuropathy type I. The endoplasmicreticulum, where the serine palmitoyltransferase long chain subunit 1 proteinresides, and mitochondria are both altered in hereditary sensory neuropathytype I mutant cells. Employing a transfected neuronal cell line ND15,



Autor: Scott E. Stimpson1,2,3*, Anu Shanu1,2,4*, Jens R. Coorssen2,3,4,5, Simon J. Myers1,2,3,4

Fuente: http://www.scirp.org/



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