Results 21 to 30 of about 1,191 (166)

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product [PDF]

Human Molecular Genetics, 2003
Mutations of the WFS1 gene are responsible for Wolfram syndrome, a rare, recessive disorder characterized by early-onset, non-autoimmune diabetes mellitus, optic atrophy and further neurological and endocrinological abnormalities. The WFS1 gene encodes wolframin, a putative multispanning membrane glycoprotein of the endoplasmic reticulum.
Sabine, Hofmann, Christine, Philbrook, Klaus-Dieter, Gerbitz, Matthias F, Bauer   +3 more
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WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]

Acta Neuropathologica Communications
Wolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska, Marie Péquignot, Emmanuelle Sarzi, Mélanie Quiles, Chantal Cazevieille, Agnès Müller, Sulev Koks, Cécile Delettre   +7 more
doaj   +3 more sources

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

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   +2 more sources

Adaptation of striated muscles to Wolframin deficiency in mice: Alterations in cellular bioenergetics [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2020
Wolfram syndrome (WS), caused by mutations in WFS1 gene, is a multi-targeting disease affecting multiple organ systems. Wolframin is localized in the membrane of the endoplasmic reticulum (ER), influencing Ca2+ metabolism and ER interaction with mitochondria, but the exact role of the protein remains unclear.
Tepp, Kersti, Puurand, Marju, Timohhina, Natalja, Aid-Vanakova, Jekaterina, Reile, Indrek, Shevchuk, Igor, Chekulayev, Vladimir, Eimre, Margus, Peet, Nadežda, Kadaja, Lumme, Paju, Kalju, Käämbre, Tuuli   +11 more
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Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches [PDF]

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   +2 more sources

Sex Differences in the Development of Diabetes in Mice with Deleted Wolframin (Wfs1) Gene

Experimental and Clinical Endocrinology & Diabetes, 2010
Wolfram syndrome, caused by mutations in the wolframin (Wfs1) gene, is characterised by juvenile-onset diabetes mellitus, progressive optic atrophy, diabetes insipidus and deafness. Diabetes tend to start earlier in boys. This study investigated sex differences in longitudinal changes in blood glucose concentration (BGC) in wolframin-deficient mice ...
Noormets, K., Kõks, S., Muldmaa, M., Mauring, L., Vasar, E., Tillmann, V.   +5 more
openaire   +3 more sources

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses [PDF]

Orphanet Journal of Rare Diseases, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey   +7 more
doaj   +2 more sources

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   +2 more sources

Novel WFS1 variants are associated with different diabetes phenotypes [PDF]

Frontiers in Genetics
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Qicheng Ni, Rulai Han, Rulai Han, Lei Ye, Lei Ye, Yifei Zhang, Yifei Zhang, Jie Hong, Jie Hong, Weiqing Wang, Weiqing Wang, Guang Ning, Guang Ning, Weiqiong Gu, Weiqiong Gu   +19 more
doaj   +2 more sources

Phosphoproteomics Reveals the Wolframin-Calcium Axis as an Important Pathogenic Signaling Node in Primary Aldosteronism

Hypertension, 2023
Background: Aldosterone-producing adenoma (APA) is a benign adrenal tumor with autonomous aldosterone production which causes hypertension and excess cardiovascular risk. Protein phosphorylation regulates aldosterone secretion from adrenal cortical cells, but how signaling networks are remodeled in APA remains unknown.
Linqiang Ma, Shumin Yang, Yi Yang, Xiangjun Chen, Jun Yang, Yifan He, Qingfeng Cheng, Junlong Li, Bing Kang, Siying Tang, Aipin Zhang, Xiaoyu Shu, Xiaoyu Li, Hang Shen, Ying Jing, Ying Song, Qifu Li, Jinbo Hu   +17 more
openaire   +3 more sources