SLC4A10 is a plasma-membrane bound transporter that utilizes the Na+ gradient to drive
cellular HCO3− uptake, thus mediating acid extrusion. In the mammalian brain, SLC4A10 is …

Abstract The ATP/GTP-Binding Protein 1 (AGTPBP1) gene (OMIM* 606830) catalyzes
deglutamylation of polyglutamylated proteins, and its deficiency manifests by cerebellar …

Mutation in a growing spectrum of genes is known to either cause or contribute to primary or
secondary microcephaly. In primary microcephaly the genetic determinants frequently …

Pathogenic variants in SOD1, encoding superoxide dismutase 1, are responsible for about
20% of all familial amyotrophic lateral sclerosis cases, through a gain-of-function …

The objective of the study was to evaluate the epidemiology of patients with congenital
myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on …

Background Developmental and epileptic encephalopathies (DEEs) represent a group of
severe neurological disorders characterised by an onset of refractory seizures during …

Abstract Background The Palestinian-Israeli Collaborative Research (PICR) cross-conflict
setting provided a unique opportunity to study overall and indirect effects of pneumococcal …

Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …

Rab35 is a small GTPase that regulates endosomal membrane trafficking and functions in
cell polarity, cytokinesis and growth factor signaling. Altered Rab35 function contributes to …

Neurodevelopmental disorders with intellectual disability (ND/ID) are a heterogeneous
group of diseases driving lifelong deficits in cognition and behavior with no definitive cure. X …