Cargando…
Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease
BACKGROUND: A 45-year old woman of Cambodian ethnic background presented with fatal respiratory failure due to a severe diaphragmatic dysfunction. Two years before, she had developed early onset of urinary symptoms. METHODS AND RESULTS: Neuroimaging showed atrophy of the spine and medulla as well as...
Autores principales: | Dainese, Linda, Monin, Marie-Lorraine, Demeret, Sophie, Brochier, Guy, Froissart, Roseline, Spraul, Anne, Schiffmann, Raphael, Seilhean, Danielle, Mochel, Fanny |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier B.V.
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7126849/ https://www.ncbi.nlm.nih.gov/pubmed/23266647 http://dx.doi.org/10.1016/j.gene.2012.12.065 |
Ejemplares similares
-
Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan
por: Sullivan, Mitchell A., et al.
Publicado: (2017) -
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
por: Kakhlon, Or, et al.
Publicado: (2021) -
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage
por: Visuttijai, Kittichate, et al.
Publicado: (2019) -
Pathomorphogenesis of Glycogen-Ground Glass Hepatocytic Inclusions (Polyglucosan Bodies) in Children after Liver Transplantation
por: Callea, Francesco, et al.
Publicado: (2022) -
Deciphering the Polyglucosan Accumulation Present in Lafora Disease Using an Astrocytic Cellular Model
por: Moreno-Estellés, Mireia, et al.
Publicado: (2023)