[HTML][HTML] A dystroglycan mutation associated with limb-girdle muscular dystrophy
Y Hara, B Balci-Hayta… - … England Journal of …, 2011 - Mass Medical Soc
Dystroglycan, which serves as a major extracellular matrix receptor in muscle and the
central nervous system, requires extensive O-glycosylation to function. We identified a …
central nervous system, requires extensive O-glycosylation to function. We identified a …
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen… - Journal of medical …, 2005 - jmg.bmj.com
Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition
characterised by congenital muscular dystrophy, structural brain defects, and eye …
characterised by congenital muscular dystrophy, structural brain defects, and eye …
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
DBV De Bernabé, T Voit, C Longman… - Journal of medical …, 2004 - jmg.bmj.com
The hypoglycosylation of o-dystroglycan is a new disease mechanism recently identified in
four congenital muscular dystrophies (CMDs): Walker–Warburg syndrome (WWS), muscle …
four congenital muscular dystrophies (CMDs): Walker–Warburg syndrome (WWS), muscle …
The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation
Dystroglycan is a cell membrane receptor that organizes the basement membrane by
binding ligands in the extracellular matrix. Proper glycosylation of the α-dystroglycan (α-DG) …
binding ligands in the extracellular matrix. Proper glycosylation of the α-dystroglycan (α-DG) …
Structural and functional analysis of mutations in alkaptonuria
JM Rodríguez, DE Timm, GP Titus… - Human molecular …, 2000 - academic.oup.com
Alkaptonuria (AKU), the prototypic inborn error of metabolism, was the first human disease to
be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century …
be interpreted as a Mendelian trait by Garrod and Bateson at the beginning of last century …
[HTML][HTML] Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
J van Reeuwijk, PK Grewal, MAM Salih… - Human genetics, 2007 - Springer
Intragenic homozygous deletions in the Large gene are associated with a severe
neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a …
neuromuscular phenotype in the myodystrophy (myd) mouse. These mutations result in a …
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype
DBV De Bernabé, H Van Bokhoven… - Journal of medical …, 2003 - jmg.bmj.com
Neuronal migration is a key process in the development of the cerebral cortex. During
neocortex lamination new sets of neurones proliferate at the subventricular zone and …
neocortex lamination new sets of neurones proliferate at the subventricular zone and …
The human homogentisate 1, 2-dioxygenase (HGO) gene
B Granadino, DBV de Bernabé, JM Fernandez-Canon… - Genomics, 1997 - Elsevier
Alkaptonuria (AKU; McKusick No. 203500), a rare hereditary disorder of the phenylalanine
catabolism, was the first disease to be interpreted as an inborn error of metabolism (AE …
catabolism, was the first disease to be interpreted as an inborn error of metabolism (AE …
[PDF][PDF] Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients
DBV de Bernabé, B Granadino, I Chiarelli… - The American Journal of …, 1998 - cell.com
Alkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism,
was the first disease to be interpreted as an inborn error of metabolism. AKU patients are …
was the first disease to be interpreted as an inborn error of metabolism. AKU patients are …
[PDF][PDF] Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1, 2 …
DBV de Bernabé, FJ Jimenez, R Aquaron… - The American Journal of …, 1999 - cell.com
We recently showed that alkaptonuria (AKU) is caused by loss-of-function mutations in the
homogentisate 1, 2 dioxygenase gene (HGO). Herein we describe haplotype and mutational …
homogentisate 1, 2 dioxygenase gene (HGO). Herein we describe haplotype and mutational …