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

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

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 …

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the
peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene …

In their recent article in Brain, Ravenscroft and Cabrera-Serrano discuss the expanding 15
genetic spectrum of hyperCKaemia. 1 As explained by the authors, there are numerous …

Short tandem repeats (STRs) are abundant and have high mutation rates across cattle
genomes; however, comprehensive exploration of cattle STRs is needed. Here, we …

Marinesco-Sjögren syndrome is a rare human disorder caused by biallelic mutations in SIL1
characterized by cataracts in infancy, myopathy and ataxia, symptoms which are also …

Simple Summary Mitochondria are organelles within our cells that are best known for their
role in energy production. They are also able to fuse, divide, and move within the cell …

Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias
and there are no clearly defined systems to classify them. Autosomal recessive ataxias …