Journal article icon

Journal article

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.

Abstract:

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high dose OHCbl, is able to bind OHCbl with wild-type affinity, leaving undetermined the disease mechanism involved [Froese et al., Mechanism of responsiveness, Mol. Genet. Metab. (2009).]. To assess whether the mutation renders the protein unstable, w...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1016/j.ymgme.2010.02.005

Authors


Expand authors...
Journal:
Molecular genetics and metabolism
Volume:
100
Issue:
1
Pages:
29-36
Publication date:
2010-05-01
DOI:
EISSN:
1096-7206
ISSN:
1096-7192
Source identifiers:
108472
Language:
English
Keywords:
Pubs id:
pubs:108472
UUID:
uuid:32ae2d53-759a-4820-9a19-e23ada8ba953
Local pid:
pubs:108472
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP