Results 201 to 210 of about 555,224 (393)

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Synaptic vesicles that store monoamines and glutamate differ in protein composition [PDF]

Hrach Asmerian, Alexia J. Diaz, Hongfei Xu, Juan A. Osés-Prieto, Jacob Alberts, Anna Magdalena Sanetra, Barathan Gnanabharathi, N. Carr, Alma L. Burlingame, Robert H. Edwards, Kätlin Silm   +10 more
openalex   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

Synaptic Vesicle Disruption in Parkinson's Disease: Dual Roles of α-Synuclein and Emerging Therapeutic Targets. [PDF]

Brain Sci
Treviño M, Guerra-Crespo M, Padilla-Godínez FJ, Ortega-Robles E, Arias-Carrión O.   +4 more
europepmc   +1 more source

Integration of postmortem amygdala expression profiling, GWAS, and functional cell culture assays: neuroticism-associated synaptic vesicle glycoprotein 2A (SV2A) gene is regulated by miR-133a and miR-218

, 2020
Magdalena Jurkiewicz, Dirk Moser, Antonius Koller, Lei Yu, Emily I. Chen, David A. Bennett, Turhan Canli   +6 more
openalex   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl, We Fong Siah, Efstratios Karavasilis, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Foteini Christidi, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

BACE1 Expression Is Required for Proper Synaptic Vesicle Dynamics in the Hippocampus. [PDF]

J Neurochem
Zhou J, Antic SD, Das B, He W, Tran DM, Hu X, Fernández-Chacón R, Yan R.   +7 more
europepmc   +1 more source

Readily releasable pool of synaptic vesicles measured at single synaptic contacts [PDF]

, 2012
Federico F. Trigo, Takeshi Sakaba, David Ogden, Alain Marty   +3 more
openalex   +1 more source

Phosphorylation of Syntaxin‐1a by casein kinase 2α regulates pre‐synaptic vesicle exocytosis from the reserve pool [PDF]

, 2020
Vanilla Shi, Tim J. Craig, Richard D. Unwin, Yasuko Nakamura, Dan L. Rocca, Kevin A. Wilkinson, Jeremy M. Henley   +6 more
openalex   +1 more source