Signal Transduction Protein CBL-C
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BackgroundThe cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated… Expand Combined methylmalonic acidemia and homocystinuria, cblC type, is an inborn error of intracellular cobalamin metabolism with a… Expand Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin… Expand INTRODUCTION
Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B… Expand The MMACHC gene product of the cblC complementation group, referred to as the cblC protein, catalyzes the in vitro and in vivo… Expand OBJECTIVE
To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria… Expand Neuronal precursor cell-expressed developmentally downregulated 4 (Nedd4) is the prototypical protein in a family of E3 ubiquitin… Expand In metazoans, CBL proteins are RING finger type ubiquitin-protein isopeptide (E3) ligases involved in the down-regulation of… Expand BACKGROUND AND PURPOSE
Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of… Expand