Associated Papers
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV.
Naito C et al.
Molecular Genetics and Metabolism Reports, 2024
Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.
Koch RL et al.
Jci Insight, 2024
Rapid Genome Sequencing Diagnosis in Pediatric Patients with Liver Dysfunction.
Bonser D et al.
The Journal of Pediatrics, 2023
A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.
Wilke MVMB et al.
Biomedicines, 2023
Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.
Carvalho A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.
Souza PVS et al.
Journal of Inherited Metabolic Disease, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Type IV Glycogen Storage Disease Associated With Hemophagocytic Lymphohistiocytosis: A Case Report.
Wei A et al.
Journal of Pediatric Hematology/oncology, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
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.
Iijima H et al.
Molecular Genetics and Metabolism Reports, 2018
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E et al.
Archives of Medical Science : Ams, 2018
New genetic causes for complex hereditary spastic paraplegia.
Souza PVS et al.
Journal of the Neurological Sciences, 2017
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese DS et al.
Human Molecular Genetics, 2015
A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease.
Sampaolo S et al.
Neuromuscular Disorders : Nmd, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Branching enzyme deficiency: expanding the clinical spectrum.
Paradas C et al.
Jama Neurology, 2014
Acute but transient neurological deterioration revealing adult polyglucosan body disease.
Billot S et al.
Journal of the Neurological Sciences, 2013
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.
Magoulas PL et al.
Human Pathology, 2012
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
Li SC et al.
Journal of Inherited Metabolic Disease, 2010
Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.
Nolte KW et al.
Acta Neuropathologica, 2008
Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene.
Massa R et al.
Muscle & Nerve, 2008
Adult polyglucosan body disease: a case report of a manifesting heterozygote.
Ubogu EE et al.
Muscle & Nerve, 2005
Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome.
Klein CJ et al.
Muscle & Nerve, 2004
Reversible brain creatine deficiency in two sisters with normal blood creatine level.
Bianchi MC et al.
Annals of Neurology, 2000
Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.
Ziemssen F et al.
Annals of Neurology, 2000