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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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ymgme.2010.02.005

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Publisher:
Elsevier Publisher's website
Journal:
Molecular genetics and metabolism Journal website
Volume:
100
Issue:
1
Pages:
29-36
Publication date:
2010-01-01
DOI:
EISSN:
1096-7206
ISSN:
1096-7192
URN:
uuid:27533a0b-79de-45ca-9886-3e2eca049b15
Local pid:
SGC:20219402

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