Results 1 to 10 of about 508 (91)

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease [PDF]

JIMD Reports
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder caused by pathogenic variants in GBE1, resulting in deficient glycogen branching enzyme (GBE) activity and formation of abnormal glycogen (“polyglucosan”).
Rebecca L. Koch, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +13 more
doaj   +3 more sources

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

Frontiers in Neurology, 2023
Inadequate glycogen branching enzyme 1 (GBE1) activity results in different forms of glycogen storage disease type IV, including adult polyglucosan body disorder (APBD).
Joseph R. Abraham, Frederick M. Allen, John Barnard, Daniela Schlatzer, Marvin R. Natowicz, Marvin R. Natowicz   +5 more
doaj   +4 more sources

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.
Matthew M. Gayed, Paulo Sgobbi, Wladimir Bocca Viera De Rezende Pinto, Priya S. Kishnani, Rebecca L. Koch   +4 more
doaj   +4 more sources

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

Frontiers in Genetics
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.
Juan Zhu, Hong-Ping Yu, Jing Zou, Yi-Wu Zhang, Xin-Qi Han, Zi-Yan Xu, Li Chen, Qian Chen, Mei-Zhu Gao, Li-Jun Xie, Xi-Kui Zhang, Jie-Wei Luo, Yun-Fei Li, Yun-Fei Li, Li Zhang   +14 more
doaj   +4 more sources

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

Annals of Clinical and Translational Neurology, 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 ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +2 more sources

A United States-based patient-reported adult polyglucosan body disease registry: initial results [PDF]

Therapeutic Advances in Rare Disease
Background: Adult Polyglucosan Body Disease (APBD) is an ultra-rare, genetic neurodegenerative disorder caused by autosomal recessive mutations in the glycogen branching enzyme gene.
Jacy Sparks, Francesco Michelassi, John L. P. Thompson, Richard Buchsbaum, Natacha Pires, Janet T. DeRosa, Kristin Engelstad, Salvatore DiMauro, Hasan Orhan Akman, Michio Hirano   +9 more
doaj   +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 ...
Jordi Duran
doaj   +2 more sources

Spastic ataxia with sensory neuropathy sans cerebral leukodystrophy in probable adult polyglucosan body disease [PDF]

Annals of Indian Academy of Neurology, 2023
Rohan Mahale, Sridhar Shashi, Anitha Mahadevan, Raviprakash Singh, Vivek Potluri, Hansashree Padmanabha, Pooja Mailankody, Mathuranath S Pavagada   +7 more
doaj   +2 more sources

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

EMBO Molecular Medicine
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 ...
Jun Wu, Or Kakhlon, Miguel Weil, Alexander Lossos, Berge A Minassian   +4 more
doaj   +2 more sources

Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model. [PDF]

J Genet Couns
ABSTRACT Patient advocacy organizations (PAOs) and genetic counseling have expanded in tandem with the growth of precision medicine. Genetic counseling and PAOs share important goals related to advancing genomic medicine, creating novel possibilities for synergistic collaboration, especially as the sheer number of PAOs focused on genetic conditions ...
Kalista M, Kessler LJ, Requesens D, Valverde KD, Mueller R.   +4 more
europepmc   +2 more sources