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
Nanoscale Remodeling of Functional Synaptic Vesicle Pools in Hebbian Plasticity
Cell Reports, 2020 Summary: Vesicle pool properties are known determinants of synaptic efficacy, but their potential role as modifiable substrates in forms of Hebbian plasticity is still unclear.
Stephanie Rey +3 more
doaj
VESAMICOL INHIBITS UPTAKE OF ACETYLCHOLINE BY SYNAPTIC VESICLES [PDF]
, 1987 Hideo Nagashima +3 more
openalex +1 more source
Artificially imposed electrical potentials drive
, 1990 Junichi Shioi, Tetsufumi Ueda
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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
Topological organization of proteins in an intracellular secretory organelle: the synaptic vesicle.
, 1979 John A. Wagner, R B Kelly
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Synaptotagmin is endogenously phosphorylated by Ca2+/calmodulin protein kinase II in synaptic vesicles [PDF]
, 1993 Maurizio Popoli
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Annals of Neurology, EarlyView.Objective Biomarkers of disease pathogenesis are critically needed for amyotrophic lateral sclerosis (ALS) to facilitate diagnosis and patient stratification into appropriate therapeutic trials. Proteomic studies offer significant potential to advance this, but reproducibility across laboratories is a key component toward identifying protein changes ...
Gabrielle L. Adler +2 more
wiley +1 more source
The synaptic vesicle protein synaptotagmin associates with calcium channels and is a putative Lambert-Eaton myasthenic syndrome antigen. [PDF]
, 1992 Christian Lévêque +9 more
openalex +1 more source
Nanostructured Biomaterial‐Based Approaches to Support Induced Pluripotent Stem Cell Differentiation
Advanced NanoBiomed Research, EarlyView.Induced pluripotent stem cells (iPSCs), reprogrammed from adult somatic cells, represent an innovative approach for regenerative medicine and biomedical applications. This review highlights the importance of nanostructured biomaterials, utilized as delivery systems or scaffolds, in supporting iPSC differentiation and fate through structural and ...
Beatriz A. B. R. Passos +2 more
wiley +1 more source