Defective glycosylation in muscular dystrophy
F Muntoni, M Brockington, DJ Blake, S Torelli… - The Lancet, 2002 - thelancet.com
Context Over the past 15 years the causative genes of several inherited muscular
dystrophies have been identified. These genes encode sarcolemmal, extracellular matrix …
dystrophies have been identified. These genes encode sarcolemmal, extracellular matrix …
[PDF][PDF] Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal …
M Brockington, DJ Blake, P Prandini, SC Brown… - The American Journal of …, 2001 - cell.com
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal
recessive disorders presenting in infancy with muscle weakness, contractures, and …
recessive disorders presenting in infancy with muscle weakness, contractures, and …
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
M Brockington, Y Yuva, P Prandini… - Human molecular …, 2001 - academic.oup.com
The limb girdle and congenital muscular dystrophies (LGMD and CMD) are characterized by
skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD …
skeletal muscle weakness and dystrophic muscle changes. The onset of symptoms in CMD …
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
…, L Merlini, M Boon, H Scheffer, M Brockington… - 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 …
Refining genotype–phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
Muscular dystrophies with reduced glycosylation of α-dystroglycan (α-DG), commonly
referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive …
referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive …
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α …
C Longman, M Brockington, S Torelli… - Human molecular …, 2003 - academic.oup.com
The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal
recessive disorders. A new pathomechanism has recently been identified in a group of these …
recessive disorders. A new pathomechanism has recently been identified in a group of these …
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy
…, I Harting, K North, J Smith, F Muntoni, M Brockington… - Nature …, 2005 - nature.com
SIL1 (also called BAP) acts as a nucleotide exchange factor for the Hsp70 chaperone BiP
(also called GRP78), which is a key regulator of the main functions of the endoplasmic …
(also called GRP78), which is a key regulator of the main functions of the endoplasmic …
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
…, H Van Bokhoven, M Brockington… - 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 …
Muscular dystrophies due to glycosylation defects
F Muntoni, S Torelli, M Brockington - Neurotherapeutics, 2008 - Springer
In the last few years, muscular dystrophies due to reduced glycosylation of alpha-
dystroglycan (ADG) have emerged as a common group of conditions, now referred to as …
dystroglycan (ADG) have emerged as a common group of conditions, now referred to as …
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
B Moghadaszadeh, N Petit, C Jaillard, M Brockington… - Nature …, 2001 - nature.com
One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare
neuromuscular disorder characterized by early rigidity of the spine and respiratory …
neuromuscular disorder characterized by early rigidity of the spine and respiratory …