12375236 |
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
Mitchell, LE,
Whitehead, AS,
McDonnell, M,
Hoess, K,
Doolin, MT,
Barbaux, S
|
Am. J. Hum. Genet. |
2002 |
17892308 |
Mechanism of coenzyme binding to human methionine synthase reductase revealed through the crystal structure of the FNR-like module and isothermal titration calorimetry
Scrutton, NS,
Wolthers, KR,
Leys, D,
Lou, X,
Toogood, HS
|
Biochemistry |
2007 |
15714522 |
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
Wilichowski, E,
Novotna, Z,
Hennermann, JB,
Mueller, P,
Fowler, B,
Zeman, J,
Horneff, G,
Zavadakova, P,
Suormala, T,
Vilarinho, L,
Gutsche, S,
Kozich, V,
Vilaseca, MA
|
Hum. Mutat. |
2005 |
10484769 |
Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
Gravel, RA,
Wilson, A,
Leclerc, D,
Rosenblatt, DS
|
Hum. Mol. Genet. |
1999 |
9501215 |
Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
Gravel, RA,
Dumas, R,
Wilson, A,
Song, D,
Leclerc, D,
Heng, HH,
Rosenblatt, DS,
Gafuik, C,
Scherer, SW,
Rommens, JM,
Watkins, D
|
Proc. Natl. Acad. Sci. U.S.A. |
1998 |
19243433 |
Cobalamin uptake and reactivation occurs through specific protein interactions in the methionine synthase-methionine synthase reductase complex
Scrutton, NS,
Wolthers, KR
|
FEBS J. |
2009 |
10444342 |
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
Gravel, RA,
Yang, H,
Rozen, R,
Wilson, A,
Christensen, B,
Leclerc, D,
Wu, Q,
Platt, R
|
Mol. Genet. Metab. |
1999 |
20120036 |
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
Zavadakova, P,
Schroeder, LD,
Doktor, TK,
Homolova, K,
Andresen, BS,
Kozich, V
|
Hum. Mutat. |
2010 |
12555939 |
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families
Zavad'áková, P,
Kozich, V,
Pristoupilová, K,
Suormala, T,
Zeman, J,
Fowler, B,
Zavadakova, P
|
J. Inherit. Metab. Dis. |
2002 |
17477549 |
Protein interactions in the human methionine synthase-methionine synthase reductase complex and implications for the mechanism of enzyme reactivation
Scrutton, NS,
Wolthers, KR
|
Biochemistry |
2007 |