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Signal Transduction Protein CBL-C

Known as: SH3-Binding Protein CBL-C, SH3-Binding Protein CBL-3, CBLC 
Signal transduction protein CBL-C (474 aa, ~52 kDa) is encoded by the human CBLC gene. This protein is involved in the regulation of both signaling… Expand
National Institutes of Health

Papers overview

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2015
2015
Inborn errors of metabolism are genetic disorders due to impaired activity of enzymes, transporters, or cofactors resulting in… Expand
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2013
2013
Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC… Expand
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Highly Cited
2010
Highly Cited
2010
INTRODUCTION Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B… Expand
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Review
2010
Review
2010
Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism error; it causes impaired conversion of dietary vitamin… Expand
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2009
2009
OBJECTIVE To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria… Expand
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Highly Cited
2009
Highly Cited
2009
The MMACHC gene product of the cblC complementation group, referred to as the cblC protein, catalyzes the in vitro and in vivo… Expand
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Highly Cited
2008
Highly Cited
2008
Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The… Expand
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Highly Cited
2002
Highly Cited
2002
In metazoans, CBL proteins are RING finger type ubiquitin-protein isopeptide (E3) ligases involved in the down-regulation of… Expand
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Highly Cited
2001
Highly Cited
2001
BACKGROUND AND PURPOSE Combined methylmalonic aciduria and homocystinuria (MMA-HC) is caused by impaired hepatic conversion of… Expand
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Highly Cited
1998
Highly Cited
1998
OBJECTIVE To compare the therapeutic effectiveness of hydroxocobalamin and cyanocobalamin in patients with combined methylmalonic… Expand
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