Results 111 to 120 of about 5,313 (208)

Sex and life experience shape locus coeruleus pretangle tau pathology

Alzheimer's &Dementia, Volume 22, Issue 3, March 2026.
Abstract INTRODUCTION Alzheimer's disease features early a pathology in the locus coeruleus (LC), yet how sex and life experience shape LC vulnerability remains poorly understood. METHODS We expressed pseudophosphorylated human tau (htauE14) in LC neurons of TH‐Cre rats and exposed both sexes to early‐ or late‐life enrichment or stress.
Zia Hasan, Sarah E. Torraville, Tamunotonye Omoluabi, Aida Maziar, Onyedikachi N. Belolise, Lauren A. MacGowan, Cassandra M. Flynn, Camila Reinhardt, Susan G. Walling, Touati Benoukraf, Qi Yuan   +10 more
wiley   +1 more source

A Case of Sanfilippo Syndrome Type C and Wolfram Syndrome Type 1 and the Role of Next-Generation Sequencing in Diagnosis

Journal of Behçet Uz Children's Hospital
Mucopolysaccharidosis IIIC (MPS IIIC) and Wolfram syndrome type 1 (WS1) are rarely seen autosomal recessive disorders with overlapping clinical features.
Zehra Manav Yiğit, Rıdvan Savaş, Aydan Mengübaş Erbaş, Gökay Bozkurt, Ayşe Tosun   +4 more
doaj   +1 more source

Wfs1 deficiency dampens locomotor rhythm in aged flies.

, 2023
Wfs1 deficiency dampens locomotor rhythm in aged flies.
Huanfeng Hao (16484819), Li Song (34475), Luoying Zhang (223659)   +2 more
core   +1 more source

Single‐cell analysis reveals neuroprotective histone deacetylase inhibitor pathways

Alzheimer's &Dementia, Volume 22, Issue 2, February 2026.
Abstract INTRODUCTION Alzheimer's disease (AD) involves β‐amyloid (Aβ) accumulation, tau pathology, and neuroinflammation, driving cognitive decline. Despite extensive research, disease‐modifying therapies remain elusive. We integrated single‐cell RNA sequencing (scRNA‐seq), spatial transcriptomics, and in vitro validation to identify repurposable ...
Madeline Peyton, Nur Jury‐Garfe, Jiahui Liu, Caleb Beimfohr, Chitra Sunil, Steven Brooks, Pengyue Zhang, Sean D. McCabe, Timothy I. Richardson, Kun Huang, Cristian A. Lasagna‐Reeves, Jie Zhang, Travis S. Johnson   +12 more
wiley   +1 more source

Proteomic dataset of wolframin-deficient mouse heart and skeletal muscles

Data in Brief, 2018
The data presented in this article are related to the research article entitled ''Increased Mitochondrial Protein Levels and Bioenergetics in the musculus rectus femoris of Wfs1-Deficient mice'' (Eimre et al., accepted for publication).
Margus Eimre, Sergo Kasvandik, Marilin Ivask, Sulev Kõks   +3 more
doaj   +1 more source

Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome

Contact, 2019
Interactions between endoplasmic reticulum (ER) and mitochondria are key components of essential cellular functions. Indeed, these membrane appositions are necessary for proper Ca 2+ transfer from ER to mitochondria, to regulate lipid metabolism ...
Benjamin Delprat, Jennifer Rieusset, Cécile Delettre   +2 more
doaj   +1 more source

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

BMC Pediatrics, 2018
Background Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract
Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng   +5 more
doaj   +1 more source

Wfs1 deficiency leads to dampened locomotor rhythm.

, 2023
Wfs1 deficiency leads to dampened locomotor rhythm.
Huanfeng Hao (16484819), Li Song (34475), Luoying Zhang (223659)   +2 more
core   +1 more source

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations

Genes
Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single ...
Julia Grzybowska-Adamowicz, K. Gadzalska, P. Jakiel, E. Juścińska, M. Gorządek, S. Skoczylas, T. Płoszaj, P. Jarosz-Chobot, Irina Kowalska, Małgorzata Myśliwiec, A. Szadkowska, A. Zmysłowska   +11 more
semanticscholar   +1 more source

Photoreceptor and inner retinal functions in Wfs1^−/− mice.

, 2014
Photoreceptor and inner retina electroretinogram data are presented in panels A and B, from ERG a- and b-wave respectively, on Wfs1+/+ and −/− mice. Both waves are represented by mean values of amplitudes and latencies at the ages of 3 (n = 10 Wfs1+/+, n 
Nesrine Benkafadar (563168), Delphine Bonnet Wersinger (563167), Cécile Delettre (563172), Jolanta Jagodzinska (563169), Christian Hamel (563170), Guy Lenaers (563171), Yukio Tanizawa (352650)   +6 more
core   +1 more source