Results 161 to 170 of about 1,568 (176)

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene

Acta Neuropathologica, 2008
A diagnosis of GSD-IV was established in three premature, floppy infants based on characteristic, however unusually pleomorphic polyglucosan bodies at the electron microscopic level, glycogen branching enzyme deficiency in two cases, and the identification of GBE1 mutations in two cases. Pleomorphic polyglucosan bodies in muscle fibers and macrophages,
Kay W, Nolte, Andreas R, Janecke, Matthias, Vorgerd, Joachim, Weis, J Michael, Schröder   +4 more
openaire   +2 more sources

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

Journal of Inherited Metabolic Disease, 2009
SummaryGlycogen storage disease type IV (GSD IV, or Andersen disease) is an autosomal recessive disorder due to the deficiency of 1,4‐α‐glucan branching enzyme (or glycogen branching enzyme, GBE1), resulting in an accumulation of amylopectin‐like polysaccharide in muscle, liver, heart and central and peripheral nervous system.
7. C. Lamperti, S. Salani, S. Lucchiari, A. Bordoni, M. Ripolone, G. Fagiolari, ME Fruguglietti, V. Crugnola, C. Colombo, A. Cappellini, A. Prelle, N. Bresolin, G.P. Comi, M. Moggio   +13 more
openaire   +3 more sources

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease. A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

2014
We report the clinical, neuro-imaging, pathological and biochemical features of an Italian family in which two siblings have the Adult Polyglucosan Body Disease (APBD). APBD is a rare autosomal recessive disorder characterized by a gradually progressive involvement of both the central and peripheral nervous systems caused by the deficiency of the ...
SAMPAOLO, Simone, Esposito T, Gianfrancesco F, Napolitano F, Lombardi L, Lucà R, Roperto F, DI IORIO, Giuseppe   +7 more
openaire   +1 more source

Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings

Neuromuscular Disorders, 2016
Ortez, C, Nascimento, A, Jimenez-Mallebrera, C, Jou, C, Llano, M, Rodriguez, A, Topf, A, Johnson, K, Straub, V, Olivé, M, Codina, A, Corbera, J, Colomer, J   +12 more
openaire   +2 more sources

Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP‐43 inclusions and ageing‐related tau astrogliopathy in a family with a GBE1 mutation

Neuropathology and Applied Neurobiology, 2023
Maiko T Uemura, John L Robinson, Kurt R Brunden   +2 more
exaly  

ҚОСТАНАЙ ЖӘНЕ АДАЙ ЖЫЛҚЫЛАРЫНЫҢ ТҰҚЫМ ҚУАЛАЙТЫН АУРУЛАРДЫҢ ГЕНЕТИКАЛЫҚ МОНИТОРИНГІ: SCN4A, GYS1, GBE1, PPIB, EDNRB ЖӘНЕ STX17 МУТАЦИЯЛАРЫНЫҢ ТАСЫМАЛДАУШЫЛЫҚ ЖИІЛІГ

3i intellect idea innovation – интеллект идея инновация
ereditary diseases in horses significantly affect animal health, breeding efficiency, and athletic performance. This study conducted a genetic survey of six well-known mutations associated with equine disorders — HYPP (SCN4A), PSSM1 (GYS1), GBED (GBE1), HERDA (PPIB), LWFS (EDNRB), and Grey/melanoma (STX17) — in two Kazakh horse populations: the ...
Aibyn Тorekhanov, Zhassulan Kozhanov, Berikzhan Kaiypbay, Yerkebulan Talzhanov   +3 more
openaire   +1 more source

GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes

Journal of Inherited Metabolic Disease, 2021
Paulo Victor Sgobbi De Souza, Igor Braga Farias, Wladimir Bocca Vieira De Rezende Pinto   +2 more
exaly  

Circular RNA PIP5K1A promotes glycolysis and malignancy of non-small cell lung cancer via miR-656-3p/GBE1 axis under hypoxia

Molecular and Cellular Toxicology, 2023
Jindong Wang, Sun Zhiguang
exaly  

A Tale of Two Siblings With Hepatomegaly: Familial Glycogen Storage Disease Type Iv With Novel Mutation In Gbe1 Gene

Journal of Clinical and Experimental Hepatology, 2023
Kalpana Panda, Mrutunjay Dash, Swaroop Kumar Bisoi, Ipsita Sahoo, Nitish Jena, Anirban Sorcer   +5 more
openaire   +1 more source

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

Neuromuscular Disorders, 2015
Simone Sampaolo, TERESA Esposito, Fernando Gianfrancesco   +2 more
exaly