[HTML][HTML] Non-lysine ubiquitylation: Doing things differently
IR Kelsall - Frontiers in Molecular Biosciences, 2022 - frontiersin.org
The post-translational modification of proteins with ubiquitin plays a central role in nearly all
aspects of eukaryotic biology. Historically, studies have focused on the conjugation of …
aspects of eukaryotic biology. Historically, studies have focused on the conjugation of …
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
S Mitra, B Chen, P Wang, EE Chown… - Disease models & …, 2023 - journals.biologists.com
Glycogen is the largest cytosolic macromolecule and is kept in solution through a regular
system of short branches allowing hydration. This structure was thought to solely require …
system of short branches allowing hydration. This structure was thought to solely require …
A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness
MH MozafaryBazargany, S Esmaeili… - ESC Heart …, 2024 - Wiley Online Library
Aims Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where
polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy …
polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy …
A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review
Q Sun, Z Xie, L Song, D Fu - Molecular Genetics & Genomic …, 2024 - Wiley Online Library
Objective To analyze the clinical and genetic characteristics of a patient with Polyglucosan
body myopathy 1 (PGBM1) caused by a novel compound heterozygous variant in the …
body myopathy 1 (PGBM1) caused by a novel compound heterozygous variant in the …