[HTML][HTML] Congenital muscular dystrophy: from muscle to brain
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that
manifest with very early onset of muscular weakness, sometime associated to severe brain …
manifest with very early onset of muscular weakness, sometime associated to severe brain …
Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan
N Kuwabara, H Manya, T Yamada… - Proceedings of the …, 2016 - National Acad Sciences
The dystrophin glycoprotein complex, which connects the cell membrane to the basement
membrane, is essential for a variety of biological events, including maintenance of muscle …
membrane, is essential for a variety of biological events, including maintenance of muscle …
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa
A growing number of human diseases have been linked to defects in protein glycosylation
that affects a wide range of organs. Among them, O-mannosylation is an unusual type of …
that affects a wide range of organs. Among them, O-mannosylation is an unusual type of …
[HTML][HTML] Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa
NHH Wang, SJ Chen, CF Yang… - … & visual science, 2016 - iovs.arvojournals.org
Purpose: To identify the genetic cause in five families with autosomal recessive retinitis
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …
Dystroglycanopathies: clinical manifestations and genetics and molecular basis of the muscular dystrophies caused by defective glycosylation of α-dystroglycan
GV Aguilera, BC Vega - Investigación en Discapacidad, 2016 - medigraphic.com
In general, human muscular dystrophies are caused by mutations in genes encoding for key
proteins of the muscular tissue. A specific group of muscular dystrophies is related to …
proteins of the muscular tissue. A specific group of muscular dystrophies is related to …
Distroglicanopatías: aspectos clínicos y bases genéticas y moleculares de las distrofias musculares causadas por defectos en la glicosilación del α-distroglicano
GV Aguilera, BC Vega - Investigación en Discapacidad, 2016 - medigraphic.com
Las distrofias musculares del humano se deben a la ausencia o mal funcionamiento de
proteínas esenciales para el tejido muscular. Un grupo importante está relacionado con …
proteínas esenciales para el tejido muscular. Un grupo importante está relacionado con …