Results 131 to 140 of about 74,688 (303)

The synaptic vesicle and the cytoskeleton [PDF]

Biochemical Journal, 1987
Walker, J., Agoston, D.
openaire   +3 more sources

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf, Andrea Accogli, Fadi F. Hamdan, Francesca Nardecchia, Toshiyuki Itai, Kenneth A. Myers, Christine Saint Martin, Myriam Srour   +7 more
wiley   +1 more source

Systemic Corticosteroids in the Management of Sinonasal Disease: An Evidence‐Based Expert Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a prevalent, heterogeneous inflammatory disease associated with significant morbidity. Systemic corticosteroids (SCS) are commonly prescribed for their anti‐inflammatory effects, but cumulative exposure carries risks, including metabolic, cardiovascular, and skeletal complications.
Andrew Thamboo, Deanna Gigliotti, Eugenio De Corso, Stella Lee, Benjamin S. Bleier, Christopher J. Chin, Marie‐Noelle Corriveau, Valerie Hox, Claire Hopkins, Peter H. Hwang, Arif Janjua, Ludger Klimek, Daniel Lee, John Lee, Amber Luong, Geoffrey Mortuaire, Joaquim Mullol, Zara M. Patel, John Scott, Doron Sommer, Leigh Sowerby, Marc Tewfik, Beatrice Voizard, Martin Wagenmannm, Sarah K. Wise, Jonathan Yip, Quirina Thompson, Martin Desrosiers, Yvonne Chan   +28 more
wiley   +1 more source

Single-Molecule Studies for the Characterization of Synaptic Vesicles [PDF]

, 2012
Thesis (Ph.D.)--University of Washington, 2012Synaptic vesicles are subcellular organelles that are found in the synaptic bouton and are responsible for the propagation of signals between neurons.
Gadd, Jennifer Claire
core  

ApoE‐ and Cfh‐deficient mice exhibit structural and molecular features of human early–intermediate retinal degeneration

Animal Models and Experimental Medicine, EarlyView.
Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde, Maite Moreno Orduña, Jaione Bezunartea, Idoia Belza, Ainara Chas, Laura Fernández‐Sánchez, Nicolás Cuenca Navarro, Alfredo García‐Layana, Patricia Fernández‐Robredo, María Hernández   +9 more
wiley   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

LOCALIZATION OF RAB5 TO SYNAPTIC VESICLES IDENTIFIES ENDOSOMAL INTERMEDIATE IN SYNAPTIC VESICLE RECYCLING PATHWAY [PDF]

, 1994
Fischer von Mollard G, STAHL B, WALCHSOLIMENA C, et al. LOCALIZATION OF RAB5 TO SYNAPTIC VESICLES IDENTIFIES ENDOSOMAL INTERMEDIATE IN SYNAPTIC VESICLE RECYCLING PATHWAY. EUROPEAN JOURNAL OF CELL BIOLOGY.
DECAMILLI, P, JAHN, R, TAKEI, K, SUDHOF, TC, KHOKLATCHEV, A, STAHL, B, WALCHSOLIMENA, C, DANIELS, L, Fischer von Mollard, Gabriele ; https://orcid.org/   +8 more
core  

Botulinum neurotoxin Light Chain/A1 uses fast synaptic vesicle cycling to cleave plasma membrane bound SNAP-25

Communications Biology
Botulinum neurotoxins (BoNT) are the most potent protein toxins for humans, yet how BoNT-Light Chain/A1 (LC/A1) journeys to cleave intracellular SNAP-25 is understudied.
Alexander Gardner, Molly Sneller, William H. Tepp, Joseph T. Barbieri, Sabine Pellett   +4 more
doaj   +1 more source