Results 1 to 10 of about 51,471 (255)

Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls [PDF]

Frontiers in Genetics, 2023
Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1.
Priya S Kishnani, Rebecca L Gould
exaly   +4 more sources

Proteomic investigations of adult polyglucosan body disease: insights into the pathobiology of a neurodegenerative disorder. [PDF]

Front Neurol, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Abraham JR, Allen FM, Barnard J, Schlatzer D, Natowicz MR.   +4 more
europepmc   +2 more sources

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models [PDF]

Neurotherapeutics, 2022
Emrah Gumusgoz, Sahba Kasiri, Jun Wu
exaly   +2 more sources

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism [PDF]

EMBO Molecular Medicine, 2021
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra   +2 more
exaly   +2 more sources

Spastic Ataxia with Sensory Neuropathy Sans Cerebral Leukodystrophy in Probable Adult Polyglucosan Body Disease. [PDF]

Ann Indian Acad Neurol, 2023
Mahale R, Shashi S, Mahadevan A, Singh R, Potluri V, Padmanabha H, Mailankody P, Pavagada MS.   +7 more
europepmc   +1 more source

Polyglucosan body disease in an aged chimpanzee (Pan troglodytes). [PDF]

Neuropathology, 2023
Gumber S, Connor-Stroud F, Howard D, Zhang X, Bradley BJ, Sherwood CC, Walker LC.   +6 more
europepmc   +1 more source

Abundant copathologies of polyglucosan bodies, frontotemporal lobar degeneration with TDP-43 inclusions and ageing-related tau astrogliopathy in a family with a GBE1 mutation. [PDF]

Neuropathol Appl Neurobiol, 2023
Uemura MT, Suh ER, Robinson JL, Brunden KR, Grossman M, Irwin DJ, Lee VM, Trojanowski JQ, Lee EB, Van Deerlin VM.   +9 more
europepmc   +1 more source

Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders. [PDF]

Cells, 2023
Duran J.
europepmc   +1 more source

Two Diseases-One Preclinical Treatment Targeting Glycogen Synthesis. [PDF]

Neurotherapeutics, 2022
Gentry MS, Markussen KH, Donohue KJ.
europepmc   +1 more source

Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of <i>GBE1</i>-Related Disease. [PDF]

JIMD Rep
Koch RL, Akman HO, Chown E, Goldman D, Levenson J, Lu Q, Michalovicz Gill LT, Morgan M, Orthmann-Murphy JL, Pires NT, Reef R, Saxe H, Singer-Berk M, Baxter S.   +13 more
europepmc   +1 more source