ArticleProceedings of the National Academy of Sciences of the United States of America2004
The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 80 citations in OpenAlex.
- Arrested hydrocephalus and beyond: advances in the pathophysiology, diagnosis, and management of various forms of chronic hydrocephalus: a comprehensive narrative review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Review
- A pathogenic mutation in α-SNAP impairs membrane lipid binding by concealing a critical hydrophobic loop.Communications biology · 2026Article
- Abnormal Transcytosis Mechanisms in the Pathogenesis of Hydrocephalus: A Review.International journal of molecular sciences · 2025Review
- Genetic and molecular mechanisms of hydrocephalus.Frontiers in molecular neuroscience · 2024Review
- A selective defect in the glial wedge as part of the neuroepithelium disruption in hydrocephalus development in the mouse hyh model is associated with complete corpus callosum dysgenesis.Frontiers in cellular neuroscience · 2024Article
- Alpha-SNAP (M105I) mutation promotes neuronal differentiation of neural stem/progenitor cells through overactivation of AMPK.Frontiers in cell and developmental biology · 2023Article
- Ptpn20 deletion in H-Tx rats enhances phosphorylation of the NKCC1 cotransporter in the choroid plexus: an evidence of genetic risk for hydrocephalus in an experimental study.Fluids and barriers of the CNS · 2022Article
- Review
- The Structure of the Spinal Cord Ependymal Region in Adult Humans Is a Distinctive Trait among Mammals.Cells · 2021Article
- Molecular Mechanisms and Risk Factors for the Pathogenesis of Hydrocephalus.Frontiers in genetics · 2021Review
- Newly Identified Regulators of Ovarian Folliculogenesis and Ovulation.International journal of molecular sciences · 2020Review
- Neocortical tissue recovery in severe congenital obstructive hydrocephalus after intraventricular administration of bone marrow-derived mesenchymal stem cells.Stem cell research & therapy · 2020Article
- Pleiotropic effects of alpha-SNAP M105I mutation on oocyte biology: ultrastructural and cellular changes that adversely affect female fertility in mice.Scientific reports · 2019Article
- Cytokine exocytosis and JAK/STAT activation in theJournal of cell science · 2018Article
- Inactivation of NSF ATPase Leads to Cathepsin B Release After Transient Cerebral Ischemia.Translational stroke research · 2018Article
- Development of brain ventricular system.Cellular and molecular life sciences : CMLS · 2018Review
- α-SNAP is expressed in mouse ovarian granulosa cells and plays a key role in folliculogenesis and female fertility.Scientific reports · 2017Article
- A vesicle trafficking protein αSNAP regulates Paneth cell differentiation in vivo.Biochemical and biophysical research communications · 2017Article
- NaeLife · 2017Article
- Components of the SNARE-containing regulon are co-regulated in root cells undergoing defense.Plant signaling & behavior · 2017Article
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3 authors at 3 institutions in 1 country.
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Abstract
The spontaneous autosomal recessive mouse mutant for hydrocephaly with hop gait (hyh) exhibits dramatic cystic dilation of the ventricles at birth and invariably develops hopping gait. We show that the gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha, also known as alpha-SNAP, is mutated in hyh mice. alpha-SNAP plays a key role in a wide variety of membrane fusion events in eukaryotic cells, including the regulated exocytosis of neurotransmitters. Homozygous mutant mice harbor a missense mutation M105I in a conserved residue in one of the alpha-helical domains. We demonstrate that the hyh mutant is not a null allele and is expressed; however, the mutant protein is 40% less abundant in hyh mice. The hyh mutant provides a valuable in vivo model to study vesicle/membrane trafficking and provides insight into the potential roles of alpha-SNAP in embryogenesis and brain development.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.