YTHDC1 Is Essential for Postnatal Liver Development and Homeostasis
Advanced Science, EarlyView.This study identifies YTHDC1 as a key regulator of postnatal liver development and disease. Hepatocyte‐specific deletion of Ythdc1 impairs hepatocyte maturation, causing liver injury, contributing to nonalcoholic steatohepatitis and hepatocellular carcinoma.
Xinzhi Li +8 more
wiley +1 more source
Rho GTPase signaling and mDia facilitate endocytosis via presynaptic actin
eLifeNeurotransmission at synapses is mediated by the fusion and subsequent endocytosis of synaptic vesicle membranes. Actin has been suggested to be required for presynaptic endocytosis but the mechanisms that control actin polymerization and its mode of ...
Kristine Oevel +6 more
doaj +1 more source
N-glycoproteomics of brain synapses and synaptic vesicles. [PDF]
Cell Rep, 2023 Bradberry MM +4 more
europepmc +1 more source
Uptake of GABA by rat brain synaptic vesicles isolated by a new procedure. [PDF]
, 1988 Johannes Hell +3 more
openalex +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Morphological and biochemical studies on the development of cholinergic properties in cultured sympathetic neurons. I. Correlative changes in choline acetyltransferase and synaptic vesicle cytochemistry. [PDF]
, 1980 Mary I. Johnson +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
Parkinson's disease-linked parkin mutation disrupts recycling of synaptic vesicles in human dopaminergic neurons. [PDF]
Neuron, 2023 Song P +12 more
europepmc +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, EarlyView.Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel +10 more
wiley +1 more source
VESAMICOL INHIBITS UPTAKE OF ACETYLCHOLINE BY SYNAPTIC VESICLES [PDF]
, 1987 Hideo Nagashima +3 more
openalex +1 more source