Results 11 to 20 of about 493 (92)

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

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   +2 more sources

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

Front Genet, 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.
Gayed MM, Sgobbi P, Pinto WBVR, Kishnani PS, Koch RL.   +4 more
europepmc   +2 more sources

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease. [PDF]

Ann Clin Transl Neurol, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Chown EE, Wang P, Zhao X, Crowder JJ, Strober JW, Sullivan MA, Xue Y, Bennett CS, Perri AM, Evers BM, Roach PJ, Depaoli-Roach AA, Akman HO, Pederson BA, Minassian BA.   +14 more
europepmc   +2 more sources

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of <i>GBE1</i> p.R156C and deletion exon 3-7. [PDF]

Front Genet
IntroductionAdult Polyglucosan Body Disease (APBD) is a rare, autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems. It is primarily caused by mutations in the Glycogen Branching Enzyme 1 (GBE1) gene.
Zhu J, Yu HP, Zou J, Zhang YW, Han XQ, Xu ZY, Chen L, Chen Q, Gao MZ, Xie LJ, Zhang XK, Luo JW, Li YF, Zhang L.   +13 more
europepmc   +2 more sources

Clinical and genetic heterogeneity of adult polyglucosan body disease caused by GBE1 biallelic mutations in China. [PDF]

Genes Dis
Chen Y, Shi Y, Gao Y, Hu Y, Zhou L, Hong J, Gan S, Lin X, Chen W, Xu G, He J.   +10 more
europepmc   +2 more sources

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

Cells, 2023
Lafora disease is a rare disorder caused by loss of function mutations in either the EPM2A or NHLRC1 gene. The initial symptoms of this condition are most commonly epileptic seizures, but the disease progresses rapidly with dementia, neuropsychiatric ...
Duran J.
europepmc   +2 more sources

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism. [PDF]

EMBO Mol Med
In this Correspondence, B. Minassian and colleagues report that GHF201, an autophagy activator shown to diminish abnormal glycogen aggregates in a mouse model of Adult Polyglucosan Body Disease, fails to reduce such accumulations in a mouse model of ...
Wu J, Kakhlon O, Weil M, Lossos A, Minassian BA.   +4 more
europepmc   +2 more sources

Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Alces alces) Presenting with Signs of Blindness and Circling

Animals, 2022
Lafora disease is an autosomal recessive glycogen-storage disorder resulting from an accumulation of toxic polyglucosan bodies (PGBs) in the central nervous system, which causes behavioral and neurologic symptoms in humans and other animals. In this case
Madhu Ravi, Atilano Lacson, Margo Pybus, Mark C. Ball   +3 more
doaj   +1 more source