Results 41 to 50 of about 4,843,940 (181)
A PTG variant contributes to a milder phenotype in Lafora disease.
PLoS ONE, 2011 Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may
Rosa Guerrero +12 more
doaj +1 more source
A retrospective case series of clinical signs in 28 Beagles with Lafora disease
Journal of Veterinary Internal Medicine, 2021 Background Clinical signs and their progression in Beagles with Lafora disease are poorly described. Objectives To describe clinical signs in Beagles with Lafora disease.
Thomas Flegel +14 more
doaj +1 more source
Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress. [PDF]
Int J Mol Sci, 2023 Lafora disease is a rare, fatal form of progressive myoclonus epilepsy characterized by continuous neurodegeneration with epileptic seizures, characterized by the intracellular accumulation of aberrant polyglucosan granules called Lafora bodies.
Romá-Mateo C +10 more
europepmc +2 more sources
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease. [PDF]
, 2018 Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem.
Jagannathan, Vidya +6 more
core +3 more sources
Changing shapes of glycogen-autophagy nexus in neurons: Perspective from a rare epilepsy
Frontiers in Neurology, 2015 In brain, glycogen metabolism is predominantly restricted to astrocytes but it also indirectly supports neuronal functions. Increased accumulation of glycogen in neurons is mysteriously pathogenic triggering neurodegeneration as seen in ‘Lafora disease ...
Pankaj Kumar Singh, Sweta eSingh
doaj +1 more source
Lafora disease in miniature Wirehaired Dachshunds. [PDF]
PLoS ONE, 2017 Lafora disease (LD) is an autosomal recessive late onset, progressive myoclonic epilepsy with a high prevalence in the miniature Wirehaired Dachshund.
Lindsay Swain +7 more
doaj +1 more source
Canine Genetics and Epidemiology, 2018 Background Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies.
Saija Ahonen +7 more
doaj +1 more source
Ketogenic diet reduces Lafora bodies in murine Lafora disease [PDF]
Neurology Genetics, 2020 Lafora disease (LD) is a teenage-onset fatal progressive myoclonus epilepsy caused by loss-of-function mutations in the EPM2A gene encoding the glycogen phosphatase laforin or EPM2B encoding the laforin-interacting ubiquitin E3 ligase malin. Concerted actions of glycogen synthase (GS) and branching enzyme generate normal short-branched soluble glycogen.
Israelian, Lori +4 more
openaire +2 more sources
Lafora disease: A review of the literature
, 2020 9 páginas, 2 figuas, 1 tablaIntroduction. Lafora disease is autosomal recessive progressive myoclonus epilepsy with late childhood-to teenage-onset caused by loss-of-function mutations in either EPM2A or EPM2B genes encoding laforin or malin ...
Desdentado, L. +3 more
core +1 more source
Molecular architecture of the glycogen- committed PP1/PTG holoenzyme
Nature Communications, 2022 Glycogen metabolism is tightly regulated. Here the authors describe the 3D structure of the PP1/PTG protein complex, which plays a prominent role in the activation of glycogen synthesis and in the pathogenesis of Lafora disease, the most severe form of ...
Marta Stefania Semrau +6 more
doaj +1 more source