BiP (immunoglobulin heavy-chain binding p rotein) is the endoplasmic reticulum (ER)
orthologue of the Hsp70 family of molecular chaperones and is intricately involved in most …

Thiol groups can undergo numerous modifications, making cysteine a unique molecular
switch. Cysteine plays structural and regulatory roles as part of proteins or glutathione …

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive
mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological …

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the
autophagy machinery or closely related proteins have recently emerged as an important …

Amyotrophic lateral sclerosis (ALS) is characterized by the selective degeneration of motor
neurons (MNs) and their target muscles. Misfolded proteins which often form intracellular …

Diabetes mellitus and neurodegeneration are common diseases for which shared genetic
factors are still only partly known. Here, we show that loss of the BiP (immunoglobulin heavy …

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

Mechanisms underlying motor neuron subtype–selective endoplasmic reticulum (ER) stress
and associated axonal pathology in amyotrophic lateral sclerosis (ALS) remain unclear …

Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder
characterized by the principal features of callosal agenesis, cataracts, oculocutaneous …

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