WFS1 pAb host: Rabbit
- Known as:
- WFS1 pAb production species: Rabbit
- Catalog number:
- bs60455
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Bioworld
- Gene target:
- WFS1 pAb host: Rabbit
Ask about this productRelated genes to: WFS1 pAb host: Rabbit
- Gene:
- PPP1R18 NIH gene
- Name:
- protein phosphatase 1 regulatory subunit 18
- Previous symbol:
- KIAA1949
- Synonyms:
- phostensin
- Chromosome:
- 6p21.33
- Locus Type:
- gene with protein product
- Date approved:
- 2004-03-02
- Date modifiied:
- 2016-10-05
- Gene:
- WFS1 NIH gene
- Name:
- wolframin ER transmembrane glycoprotein
- Previous symbol:
- DFNA6, DFNA14, DFNA38
- Synonyms:
- DIDMOAD, WFS
- Chromosome:
- 4p16.1
- Locus Type:
- gene with protein product
- Date approved:
- 1995-01-30
- Date modifiied:
- 2016-02-17
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- Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. Two homozygous variants in the gene were identified, each in one of the two families studied: a missense c.1329C>G variant (p.Ser443Arg) and a nonsense mutation c.1113G>A (p.Trp371Ter). These variants affected conserved amino acid residues, segregated well in the two families, and are absent from genetic databases and in controls of Moroccan origin. Bioinformatics analysis classified the two variants as pathogenic by tools and molecular modeling. Our study identified for the first time two variants in Moroccan patients with WFS that extends the mutational spectrum associated with the disease. - Source: PubMed
Publication date: 2024/05/09
Bouhouche AhmedSefiani SaraCharoute HichamHouyam TibarBouslam NaimaEl Yousfi Fatima-ZahraBnouhana WadiBenomar AliOuadghiri Fatima-ZahraRegragui Wafaa - Dominant variants in (wolframin ER transmembrane glycoprotein), the gene coding for a mitochondria-associated endoplasmic reticulum (ER) membrane (MAM) resident protein, have been associated with Wolfram-like syndrome (WLS). and , WFS1 loss results in reduced ER to mitochondria calcium (Ca) transfer, mitochondrial dysfunction, and enhanced macroautophagy/autophagy and mitophagy. However, in the WLS pathological context, whether the mutant protein triggers the same cellular processes is unknown. Here, we show that in human fibroblasts and murine neuronal cultures the WLS protein WFS1 leads to decreases in mitochondria bioenergetics and Ca uptake, deregulation of the mitochondrial quality system mechanisms, and alteration of the autophagic flux. Moreover, in the mouse, these alterations are concomitant with a decrease of MAM number. These findings reveal pathophysiological similarities between WS and WLS, highlighting the importance of WFS1 for MAM's integrity and functionality. It may open new treatment perspectives for patients with WLS. BafA1: bafilomycin A; ER: endoplasmic reticulum; HSPA9/GRP75: heat shock protein family A (Hsp70) member 9; ITPR/IPR: inositol 1,4,5-trisphosphate receptor; MAM: mitochondria-associated endoplasmic reticulum membrane; MCU: mitochondrial calcium uniporter; MFN2: mitofusin 2; OCR: oxygen consumption rate; ROS: reactive oxygen species; ROT/AA: rotenone+antimycin A; VDAC1: voltage dependent anion channel 1; WLS: Wolfram-like syndrome; WS: Wolfram syndrome; WT: wild-type. - Source: PubMed
Publication date: 2024/04/23
Patergnani SimoneBataillard Méghane SDanese AlbertoAlves StacyCazevieille ChantalValéro RenéTranebjærg LisbethMaurice TanguiPinton PaoloDelprat BenjaminRichard Elodie M - Assessing and responding to threats is vital in everyday life. Unfortunately, many mental illnesses involve impaired risk assessment, affecting patients, families, and society. The brain processes behind these behaviors are not well understood. We developed a transgenic mouse model (disrupted-in-schizophrenia 1 [DISC1]-N) with a disrupted avoidance response in risky settings. Our study utilized single-nucleus RNA sequencing and path-clamp coupling with real-time RT-PCR to uncover a previously undescribed group of glutamatergic neurons in the basolateral amygdala (BLA) marked by Wolfram syndrome 1 (WFS1) expression, whose activity is modulated by adjacent astrocytes. These neurons in DISC1-N mice exhibited diminished firing ability and impaired communication with the astrocytes. Remarkably, optogenetic activation of these astrocytes reinstated neuronal excitability via D-serine acting on BLA neurons' NMDA receptors, leading to improved risk-assessment behavior in the DISC1-N mice. Our findings point to BLA astrocytes as a promising target for treating risk-assessment dysfunctions in mental disorders. - Source: PubMed
Publication date: 2024/04/16
Zhou XinyiXiao QianLiu YaohuiChen ShuaiXu XirongZhang ZhigangHong YuchuanShao JieChen YuewenChen YuWang LipingYang FanTu Jie - Papillary thyroid carcinoma (PTC) accounts for the majority of thyroid cancers and has a high recurrence rate. We aimed to screen key genes involved in PTC to provide novel insights into the mechanisms of PTC. - Source: PubMed
Publication date: 2024/03/15
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Publication date: 2023/11/15
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