Results 51 to 60 of about 3,346,977 (142)

Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome

Egyptian Journal of Medical Human Genetics
Objective Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the diagnosis of ...
Marziyeh Hoseinzadeh, Mohammad Mehdi Jahani, Samane Nasrniya, Mohammad Amin Tabatabaiefar   +3 more
doaj   +1 more source

Picky Hsp90-Every Game with Another Mate [PDF]

, 2017
In this issue of Molecular Cell, Sahasrabudhe et al. (2017) present a dramatically renovated functional cycle for the molecular chaperone Hsp90, which stimulates re-thinking of the mechanism of this vital protein folding ...
Sub Cellular Protein Chemistry, Rüdiger, Stefan G D, Radli, Martina, Cellular Protein Chemistry   +3 more
core   +2 more sources

Functional Innovation in the Evolution of the Calcium-Dependent System of the Eukaryotic Endoplasmic Reticulum

Frontiers in Genetics, 2020
The origin of eukaryotes was marked by the emergence of several novel subcellular systems. One such is the calcium (Ca2+)-stores system of the endoplasmic reticulum, which profoundly influences diverse aspects of cellular function including signal ...
Daniel E. Schäffer, Daniel E. Schäffer, Lakshminarayan M. Iyer, A. Maxwell Burroughs, L. Aravind   +4 more
doaj   +1 more source

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome

BMC Medical Genomics, 2023
Background Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function.
Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee   +6 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

Modulation of Wolframin Expression in Human Placenta during Pregnancy: Comparison among Physiological and Pathological States

, 2014
The WFS1 gene, encoding a transmembrane glycoprotein of the endoplasmic reticulum called wolframin, is mutated in Wolfram syndrome, an autosomal recessive disorder defined by the association of diabetes mellitus, optic atrophy, and further organ ...
Sellitto C., De Luca A., Lucariello A, Iannaccone A., De Falco M., COBELLIS, Luigi, Perna A., BALDI, Alfonso, Cobellis L., Sellitto C, Lucariello A., Perna A, DE FALCO, MARIA, DE LUCA, Antonio, Baldi A., Iannaccone A   +15 more
core   +1 more source

A script to highlight hydrophobicity and charge on protein surfaces [PDF]

, 2015
The composition of protein surfaces determines both affinity and specificity of protein-protein interactions. Matching of hydrophobic contacts and charged groups on both sites of the interface are crucial to ensure specificity.
Tania eMorán Luengo, Stefan G. D. Rüdiger, Dominique Hagemans, Cellular Protein Chemistry, Ianthe A. E. M. van Belzen, Ianthe A.E.M. van Belzen, van Belzen, Ianthe A E M, Sub Cellular Protein Chemistry, Morán Luengo, Tania, Rüdiger, Stefan G D, Tania Morán Luengo, Dominique eHagemans, Hagemans, Dominique   +12 more
core   +2 more sources

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

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Peroxisomal membrane proteins insert into the endoplasmic reticulum [PDF]

, 2010
We show that a comprehensive set of 16 peroxisomal membrane proteins (PMPs) encompassing all types of membrane topologies first target to the endoplasmic reticulum (ER) in Saccharomyces cerevisiae.
Sub Cellular Protein Chemistry, van der Zand, A., Tabak, H.F., Braakman, L.J., Cellular Protein Chemistry   +4 more
core   +1 more source