A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation-Reference-Cited by-同舟云学术

A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation

Published:2018-01-24 Issue:2 Volume:41 Page:187-196
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Mayr Simon Julius,Sass Jörn Oliver,Vry Julia,Kirschner Janbernd,Mader Irina,Hövener Jan-Bernd,Reiss Jochen,Santamaria-Araujo José Angel,Schwarz Günter,Grünert Sarah Catharina

Funder

Deutsche Forschungsgemeinschaft

Deutsche Forschungsgemeinschaft (DE), Academy of Excellence

Deutsche Forschungsgemeinschaft (DE), Emmy Noether Program

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10545-018-0138-7/fulltext.html

Reference44 articles.

1. Arenas M, Fairbanks LD, Vijayakumar K, Carr L, Escuredo E, Marinaki AM (2009) An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency. J Inherit Metab Dis 32:560–569

2. Atwal PS, Scaglia F (2016) Molybdenum cofactor deficiency. Mol Genet Metab 117:1–4

3. Belaidi AA, Schwarz G (2013) Metal insertion into the molybdenum cofactor: product-substrate channelling demonstrates the functional origin of domain fusion in gephyrin. Biochem J 450:149–157

4. Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G (2012) Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. JIMD Rep 5:35–43

5. Bottomley PA (1987) Spatial localization in NMR spectroscopy in vivo. Ann N Y Acad Sci 508:333–348

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