Excess ASNS links neuronal stress to Angelman syndrome features in mice
Reducing excess asparagine synthetase in a mouse model of Angelman syndrome restored protein synthesis and improved microcephaly and many behavioural ...
Tag: neurodevelopmental disorder
Patient-derived cells reveal metabolic and lysosomal defects in TFE3 neurodevelopmental disorder
Patient-derived fibroblasts with TFE3-associated neurodevelopmental disorder showed metabolic rigidity, dysfunctional lysosomes, impaired migration and an unstable extracellular-matrix interface.
Novel CTNNB1 missense variant identified in child with spastic diplegia and visual defects
A 7-year-old Iranian boy with a previously unreported CTNNB1 missense variant showed developmental delay, spastic diplegia, microcephaly, behavioral problems and ...
Rare Chromosome 15 Duplication Syndrome Often Evades Prenatal Detection, Case Analysis Reveals
A new case report and pooled analysis of 35 prenatal cases shows that 15q duplication syndrome frequently escapes prenatal detection ...
Protein Therapy Aims to Restore Brain Function in Fragile X Syndrome
A UC Riverside team funded by FRAXA will test engineered proteins designed to cross the blood-brain barrier and normalize brain ...
Loss of a Single Protein Derails Brain Development and Drives Autism-Like Behavior in Mice
New research shows that the protein UBAP2L is essential for neural progenitor cell division, and that its loss in mice ...
Rett Syndrome Without MECP2: Single Gene Variant Rewrites the Diagnostic Story
Swedish researchers report that a de novo variant in the GABBR2 gene, which encodes a GABA-B receptor subunit, caused classic ...
Synaptotagmins: How Calcium-Sensing Proteins Decide Whether Neurons Thrive or Die
A sweeping review of all seventeen mammalian synaptotagmin proteins reveals how failures in calcium-sensing vesicle fusion machinery can cascade from ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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