Results 41 to 50 of about 9,468,531 (154)

Triacylglycerol mimetics regulate membrane interactions of glycogen branching enzyme: implications for therapy

Journal of Lipid Research, 2017
Adult polyglucosan body disease (APBD) is a neurological disorder characterized by adult-onset neurogenic bladder, spasticity, weakness, and sensory loss.
Rafael Alvarez, Jesús Casas, David J. López, Maitane Ibarguren, Ariadna Suari-Rivera, Silvia Terés, Francisca Guardiola-Serrano, Alexander Lossos, Xavier Busquets, Or Kakhlon, Pablo V. Escribá   +10 more
doaj   +1 more source

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

Molecular Genetics and Metabolism Reports, 2018
Background: Glycogen storage disease type IV (GSD IV), caused by GBE1 mutations, has a quite wide phenotypic variation. While the classic hepatic form and the perinatal/neonatal neuromuscular forms result in early mortality, milder manifestations include
Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi   +7 more
doaj   +1 more source

Neuro-Ophthalmic Manifestations of Adult Polyglucosan Body Disease

, 2023
Adult polyglucosan body disease (APBD) is characterized by the development of progressive gait dysfunction, autonomic dysfunction, sensory loss, cognitive difficulties, and neurogenic bladder after 40 years of age (Akman 1).
Andrew Dugue; Scott Grossman; Nicolas Abreu; Cinthi Pillai
core  

Polyglucosan body myopathy: a new case

, 1992
We report a 51-yr-old woman with late-onset progressive weakness affecting proximal limb muscles. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide resembling the polyglucosan found in type IV glycogenosis ...
RIZZUTO, Nicolo', TONIN, PAOLA, TOMELLERI, Giuliano, Vio M.   +3 more
core   +1 more source

The challenge of ultra‐rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants

Epilepsia Open, Volume 10, Issue 6, Page 1990-1996, December 2025.
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Lorenzo Muccioli, Francesca Bisulli, Raffaella Minardi, Maria Lucia Valentino, Micaela De Simone, Rodrigo Almeida Paroni, Edward Cesnik, Elisa Fallica, Luigi Bonan, Eleonora Pizzi, DEFEAT‐LD Study Group, Cosimo Altomare, Massimo Carella, Cinzia Costa, Giuseppe Damante, Lidia Di Vito, Giuseppe d’Orsi, Nicola Gambacorta, Paola Imbrici, Valentina Imperatore, Antonella Liantonio, Laura Licchetta, Raffaele Lodi, Paola Mantuano, Orazio Palumbo, Elena Pasini, Paolo Prontera, Luca Vignatelli, Gaetano Cantalupo, Laura Licchetta   +29 more
wiley   +1 more source

Expanding the phenotype of RBCK1-associated polyglucosan body myopathy type 1. [PDF]

Mol Genet Metab Rep
Polyglucosan body myopathy-1 (PGBM1) is an extremely rare glycogen storage diseases that leads to muscle weakness and cardiomyopathy due to the accumulation of polyglucosan bodies.
Pühringer M, Eisenkölbl A, Gröppel G.
europepmc   +2 more sources

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

Characterisation of phenotypic patterns in equine exercise‐associated myopathies

Equine Veterinary Journal, Volume 57, Issue 2, Page 347-361, March 2025.
Abstract Background Equine exercise‐associated myopathies are prevalent, clinically heterogeneous, generally idiopathic disorders characterised by episodes of myofibre damage that occur in association with exercise. Episodes are intermittent and vary within and between affected horses and across breeds.
Victoria Lindsay‐McGee, Claire Massey, Ying Ting Li, Emily L. Clark, Androniki Psifidi, Richard J. Piercy   +5 more
wiley   +1 more source

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency

, 2022
Longer glucan chains tend to precipitate. Glycogen, by far the largest mammalian glucan and the largest molecule in the cytosol with up to 55 000 glucoses, does not, due to a highly regularly branched spherical structure that allows it to be perfused ...
Ahonen, S., Nitschke, S., Nitschke, Felix, Wang, P., Vilaplana, Francisco, Vilaplana, Francisco,, Grossman, Tamar R, Minassian, B. A., Wu, Jun, Marchioni, Charlotte R, Perri, A. M., Digiovanni, L. F., Nitschke, Silvia, Chown, E. E., DiGiovanni, Laura F, Petković, Sara, Perri, Ami M, Ahonen, Saija, Smith, B. H., Wang, Peixiang, Israelian, Lori, Zhao, Xiaochu, Kordasiewicz, Holly, Mitra, S., Marchioni, C. R., Mitra, Sharmistha, Israelian, L., Lee, J. P. Y., Lee, Jennifer P  Y, Wu, J., Zhao, X., Iwai, Kazuhiro, Smith, Brandon H, Chown, Erin E, Iwai, K., Minassian, Berge A, Sullivan, Mitchell A, Sullivan, M. A., Kordasiewicz, H., Grossman, T. R., Nitschke, F., Petković, S.   +41 more
core   +1 more source