GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12325
Abstract: Adult polyglucosan body disease (APBD) represents a complex autosomal recessive inherited neurometabolic disorder due to homozygous or compound heterozygous pathogenic variants in GBE1 gene, resulting in deficiency of glycogen‐branching enzyme and secondary storage of glycogen… read more here.
Keywords: adult polyglucosan; polyglucosan body; disease; body disease ... See more keywords
AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
Sign Up to like & getrecommendations! Published in 2022 at "Neurotherapeutics"
DOI: 10.1007/s13311-022-01218-7
Abstract: Adult polyglucosan body disease (APBD) and Lafora disease (LD) are autosomal recessive glycogen storage neurological disorders. APBD is caused by mutations in the glycogen branching enzyme ( GBE1 ) gene and is characterized by progressive… read more here.
Keywords: glycogen; adult polyglucosan; polyglucosan bodies; disease ... See more keywords
Pharmacological approaches for treating glycogen storage disorders involving polyglucosan body accumulation
Sign Up to like & getrecommendations! Published in 2017 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2017.1405804
Abstract: ABSTRACT Introduction: Glycogen storage disorders (GSDs) are mainly caused by over-accumulation of normal or malconstructed glycogen. A few GSDs, Adult Polyglucosan Body Disease (APBD), Andersen Disease, Tarui Disease and Lafora Disease are also associated with… read more here.
Keywords: accumulation; glycogen storage; glycogen; polyglucosan body ... See more keywords
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14350
Abstract: Polyglucosan body myopathy type 1 (PGBM1, OMIM #615895.) is a rare autosomal recessive disorder caused by RBCK1 mutations. The patients displayed polyglucosan accumulation in skeletal and cardiac muscles, giving rise to loss of ambulation and… read more here.
Keywords: codon variant; synonymous codon; polyglucosan body; body myopathy ... See more keywords