The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in
protein biogenesis, calcium (Ca2+) homeostasis, and signal transduction. Among the …

Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by mutations in the
FMR1 gene and deficiency of a functional FMRP protein. FMRP is known as a translation …

Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust
analysis of proteins relevant for the manifestation of neuromuscular diseases in the following …

Recessive mutations in DNAJC3, an endoplasmic reticulum (ER)-resident BiP co-
chaperone, have been identified in patients with multisystemic neurodegeneration and …

Aims MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and
biallelic loss‐of‐function mutations cause a complex, neuromuscular disorder in children …

Congenital myasthenic syndromes (CMS) are a group of rare disorders that cause fatigable
muscle weakness due to defective signal transmission at the neuromuscular junction, a …

Cell surface and secreted proteins provide essential functions for multicellular life. They
enter the endoplasmic reticulum (ER) lumen co-translationally, where they mature and fold …

Bi‐allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein
localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with …

The RASopathies are a group of genetic rare diseases caused by mutations affecting genes
involved in the RAS/MAPK (RAS–mitogen activated protein kinase) pathway. Among them …

Serine palmitoyltransferase long chain base subunit 1 (SPTLC1) encodes a serine
palmitoyltransferase (SPT) resident in the endoplasmic reticulum (ER). Pathological …