Search results for "Lafora"
showing 10 items of 13 documents
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
2020
Oxidative stress is an imbalance between production and accumulation of oxygen reactive species and/or reactive nitrogen species in cells and tissues, and the capacity of detoxifying these products, using enzymatic and non-enzymatic components, such as glutathione. Oxidative stress plays roles in several pathological processes in the nervous system, such as neurotoxicity, neuroinflammation, ischemic stroke, and neurodegeneration. The concepts of oxidative stress and rare diseases were formulated in the eighties, and since then, the link between them has not stopped growing. The present review aims to expand knowledge in the pathological processes associated with oxidative stress underlying …
Ubiquitin conjugating enzyme E2-N and sequestosome-1 (p62) are components of the ubiquitination process mediated by the malin-laforin E3-ubiquitin li…
2015
11 páginas, 9 figuras.
Alteraciones en la homeostasis del transportador de glutamato GLT-1 en la Enfermedad de Lafora
2017
Tesis doctoral, 192 páginas, figuras y tablas
Extracerebral biopsies in neurodegenerative diseases of childhood
1999
Abstract Among the numerous neurodegenerative diseases in children few may allow morphological diagnosis by extracerebral biopsy. These encompass neurometabolic conditions, foremost lysosomal disorders, but also peroxisomal and mitochondrial diseases marked by disease- or group-specific organelles. Largely, these neurometabolic conditions can also be diagnosed by biochemical and increasingly by molecular genetic techniques. However, there are a few neurodegenerative diseases which do not allow either biochemical or molecular genetic diagnosis and, thus, rely on biopsy of extracerebral tissues, so-called ‘essential’ biopsies to achieve a diagnosis during the patient's life. Among these few d…
Mecanismo molecular del proceso de ubicuitinación mediado por el complejo laforina-malina.
2017
Tesis doctoral, 123 páginas.
Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells
2013
13 páginas, 8 figuras (que no aparecen en este documento, se pueden consultar en: http://www.sciencedirect.com/science/article/pii/S0891584913003274#ec0005)
Regulación de la homeostasis del glucógeno: el papel de R6 y la enfermedad de Lafora
2016
El glucógeno es la principal reserva de energía en nuestras células y es una molécula esencial para nuestro cerebro. Sin embargo, muchas cuestiones sobre el complejo metabolismo de este carbohidrato siguen por elucidar. Un paso clave en la regulación de la homeostasis del glucógeno es el llevado a cabo por la proteína fosfatasa de tipo 1, PP1. PP1 es capaz de estimular la síntesis de glucógeno mediante la desfosforilación de dos enzimas clave: la glucógeno sintasa (GS) y la glucógeno fosforilasa (GP). La fosfatasa necesita unirse a subunidades reguladoras para el reconocimiento de los diferentes sustratos. En el metabolismo del glucógeno, se han descrito hasta la fecha 7 de estas subunidade…
Endocytosis of the glutamate transporter 1 is regulated by laforin and malin: Implications in Lafora disease.
2020
Postprint 36 páginas, 7 figuras
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy
2015
12 páginas, 4 figuras, 1 tabla
Adult polyglucosan body myopathy.
1992
This report describes a sporadic late-onset myopathy in two unrelated adults which was marked by polyglucosan inclusions surrounded by abnormally structured mitochondria, the latter finding a localized, possibly reactive phenomenon. The polyglucosan material was characterized by a battery of histochemical and enzyme histochemical techniques; revealed common antigenicity with Lafora bodies, corpora amylacea and muscle fiber inclusions in types IV and VII glycogenoses; and contained ubiquitin. Additional lectin histochemical and associated digestion preparations disclosed the presence of alpha-glycosyl residues as apparently the sole carbohydrate component in polyglucosan bodies while the abo…