Results 41 to 50 of about 384 (136)

A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023
Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets ...
Ayca Kocaaga, Sevgi Yimenicioglu, Murat Bayav   +2 more
doaj   +1 more source

Redirecting Alzheimer's disease therapeutics: Multitarget drugs and complementary non‐pharmacological strategies

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract Alzheimer's disease (AD) is a multifactorial neurodegenerative disorder driven by intersecting pathological processes. Persistent attrition in AD drug‐development pipelines highlights the limited clinical impact of single‐target therapies and has increased interest in multi‐target approaches acting on shared biological hubs.
Humberto Martínez‐Orozco, Jesús Andrade‐Guerrero, Nelly Jovana Pastén‐Castrejón, Chryslaine Rodríguez‐Tanty, Sofía Y Diaz‐Miranda   +4 more
wiley   +1 more source

Navigating the Genetic Risk of Chemotherapy‐Induced Hearing Loss in the Stria Vascularis

Clinical Pharmacology &Therapeutics, Volume 119, Issue 4, Page 846-858, April 2026.
Cisplatin is a chemotherapy drug that causes permanent hearing loss by damaging a critical tissue lining the inner ear, called the stria vascularis (SV). Currently, the molecular mechanisms of SV damage are largely unknown and the incidence of ototoxicity in patients cannot be reliably predicted.
Tara Lazetic, Deanne Nixie R. Miao, Britt I. Drögemöller, Alain Dabdoub, Julia M. Abitbol   +4 more
wiley   +1 more source

A Pair of Siblings With Wolfram Syndrome: A Review of the Literature and Treatment Options

Journal of Investigative Medicine High Impact Case Reports, 2023
Wolfram syndrome (WS) is a rare genetic disorder typically characterized by juvenile onset diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, and neurodegeneration.
Doanna Png MD, Ester Yeoh MBBS, MRCP, M.Med, FAMS, FRCP, Clara Tan MSc, Su Chi Lim MBBS, MRCP, FRCP, FAMS, PhD   +3 more
doaj   +1 more source

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology, Volume 14, Issue 2, Page 398-410, February 2026.
Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early‐onset insulin‐dependent diabetes, optic atrophy, central diabetes insipidus and sensi‐neuronal deafness.
Julia Rohayem, Olivia Cunningham, Denise Williams, Joachim Wistuba, Liam McCarthy, Timothy G. Barrett, Renuka P. Dias   +6 more
wiley   +1 more source

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

JCRPE, 2021
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and ...
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain   +13 more
doaj   +1 more source

Proteomic and Ubiquitinated Proteome Insights Into ER Stress Responses in Chinese Hamster Ovary Cells Under Mild Hypothermic Conditions

Biotechnology and Bioengineering, Volume 123, Issue 1, Page 5-25, January 2026.
Proteomic analysis of CHO cells under mild hypothermia (31°C) reveals ER stress responses, ubiquitination dynamics, and adaptive mechanisms. Magnetic immuno‐affinity enrichment and mass spectrometry highlight protein regulation differences in non‐producer versus producer cells, offering insights for optimising biopharmaceutical production of IgG1 and ...
David Ryan, Christiana‐Kondylo Sideri, Michael Henry, Selvaprakash Karuppuchamy, Esen Efeoglu, Paula Meleady   +5 more
wiley   +1 more source

Do wolframin, P-glycoprotein, and GRP78/BiP cooperate to alter the response of L1210 cells to endoplasmic reticulum stress or drug sensitivity?

Cancer Cell International
In previous research, we revealed that murine leukemia cells L1210 with induced expression of P-glycoprotein (P-gp, a membrane drug transporter, product of the Abcb1 gene) are better able to withstand endoplasmic reticulum (ER) stress (ERS) than their P ...
Simona Kurekova, Lucia Pavlikova, Mario Seres, Viera Bohacova, Jana Spaldova, Albert Breier, Zdena Sulova   +6 more
doaj   +1 more source

Wolframin‐1–expressing neurons in the entorhinal cortex propagate tau to neocortical brain regions under the amyloid pathology influence

Alzheimer's &Dementia, Volume 21, Issue S1, December 2025.
Abstract Background We have recently reported that wolframin‐1‐expressing (Wfs1+) pyramidal neurons in the entorhinal cortex layer II (ECII) that projects to the CA1 propagate phosphorylated tau (pTau) via the temporoammonic pathway, mimicking early stages of tau pathology in AD (ECII‐CA1 tau mice).
Seiko Ikezu, Arun Reddy Ravula, Ayaka Tatsumoto, Brendan Gibbs, Stephanie Radhakishun, Justice Ellison, Alejandro Longtree‐Preciado, Nibedita Basu Ray, Tsuneya Ikezu   +8 more
wiley   +1 more source

Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches

Scientific Reports, 2023
A single base changes causing a change to the amino acid sequence of the encoded protein, which is defined as non-synonymous single nucleotide polymorphisms (nsSNPs).
Jing Zhao, Siqi Zhang, Yuan Jiang, Yan Liu, Qingwen Zhu   +4 more
doaj   +1 more source