404 The Vps33b-Vipar complex is required for epidermal homeostasis

Mutations in Vps33b and Vipas39 cause the rare multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis syndrome (ARC); one characteristic but understudied feature of which is severe ichthyosis. The Vps33b and Vipar proteins interact and have been shown to also interact with Rab GTPases and act as a tethering factor; the class C Homologues in Endosome-Vesicle Interaction (CHEVI) complex. ARC syndrome patients have been shown to have entombed lamellar body-like structures in the stratum corneum however the molecular mechanisms underlying ARC patient ichthyosis and the specific role of the CHEVI complex in the epidermis are yet to be defined.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Epidermal Structure and Barrier Function Source Type: research

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Authors: Jovandaric MZ, Milenkovic SJ PMID: 32070152 [PubMed - as supplied by publisher]
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
Publication date: Available online 18 February 2020Source: Best Practice &Research Clinical GastroenterologyAuthor(s): Maria Guarino, Valentina Cossiga, Filomena MoriscoAbstractAbnormal liver tests occur in 3-5% of pregnancies and show many different causes. Although alterations of liver enzymes could be a physiological phenomenon, it may also reflect potential severe liver injury, necessitating further assessment and accurate management. The work-up has to consider liver diseases specific of pregnancy and non pregnancy-related liver damage (coincidental and pre-existing to pregnancy).Pre-existing liver diseases during...
Source: Best Practice and Research Clinical Gastroenterology - Category: Gastroenterology Source Type: research
ConclusionYCZFD administration ameliorated disordered bile acid homeostasis, inhibited NF-κB pathway-mediated inflammation, and protected the liver from bile duct injury. Therefore, YCZFD exerted a protective effect against cholestatic liver injury.Graphical abstract
Source: Journal of Ethnopharmacology - Category: Drugs & Pharmacology Source Type: research
ConclusionA paradigm shift in the approach to management of biliary strictures complicating LDLT is proposed whereby a multidimensional definition of FSO can help in reliable patient selection for endotherapy and improve patient outcome as a whole.
Source: Indian Journal of Gastroenterology - Category: Gastroenterology Source Type: research
Authors: Fernández Conesa M, Milena Muñoz A, Valero González MÁ Abstract We read with interest the article by Guido Villa-Gómez, Manuel Alejandro Mahler and Dante Manazzoni "A new case of pseudoaneurysm of the right hepatic artery secondary to laparoscopic cholecystectomy". A 57-year-old cholecystectomized female was admitted due to abdominal pain with an analytical pattern of cholestasis and liver enzyme alterations, with cholangitis that progressed to septic shock of a biliary origin with gradual anemia and hypotension. PMID: 32054281 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
In this study, we developed binary classification models to predict drug-induced cholestasis, cirrhosis, hepatitis, and steatosis based on the structure of drugs and their metabolites. DILI-positive data was obtained from post-market reports of drugs and DILI-negative data from DILIrank, a database curated by the Food and Drug Administration (FDA). Support vector machine (SVM) and random forest (RF) were used in developing models with nine fingerprints and one 2D molecular descriptor calculated from drug (152 DILI-positives and 102 DILI-negatives) and drug metabolite (192 DILI-positives and 126 DILI-negatives) structures. ...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
Authors: Gao X, Duan X, Cai H, Hu Y, Liu M, Kang K, Zhou M, Fu D, Yi W Abstract Background: The aim of this study was to describe biochemical, virological features and Mother-to child-transmission (MTCT) rate in chronic hepatitis B (CHB) women who stopped antiviral therapy before or in the early pregnancy. Methods: This was a single-center, retrospective study. Forty-three CHB women who stopped treatment before or in the early pregnancy and 103 CHB women with tenofovir disoproxil fumarate (TDF) treatment throughout pregnancy were enrolled. The virological and biochemical flares during pregnancy and postpartum perio...
Source: International Journal of Medical Sciences - Category: Biomedical Science Tags: Int J Med Sci Source Type: research
Publication date: May 2018 Source:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Volume 1864, Issue 5, Part A Author(s): Clare Rogerson, Paul Gissen Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis. Roles for VPS33B and VIPAR have been reported in lysosome-related organelle biogenesis, integrin recycling, collagen homeostasis and maintenance of cell polarity. Mouse knockouts of Vps33b or Vipas39 are good models of ARC syndrome and develop...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
We report on the case of a 2-year-old boy from a consanguineous Moroccan family, presenting with NISCH syndrome and carrying the so-called Moroccan homozygous mutation (c.200-201delTT). The patient presented with the characteristic symptoms of the syndrome and a favorable progression with normalization of hepatic analyses under symptomatic treatment (vitamin supplementation and ursodeoxycholic acid). The currently limited availability of clinical and therapeutic data does not allow accurate prediction of the course of the disease and short- and long-term prognosis. Moreover, substantial interindividual variability has been...
Source: Archives de Pediatrie - Category: Pediatrics Authors: Tags: Arch Pediatr Source Type: research
Three Austrian patients presented with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Exome sequencing revealed biallelic mutations in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein which interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen modifying enzyme LH3. Two patients showed the homozygous missense variant p.Gly131Glu, whilst one patient was compound heterozygous for p.Gly131Glu and the splice site mutation c.240-1G>C, previously reported in patients with arthrogryposis renal dysfunction and cholestasis syndrome.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetics and Cell Based Therapy Source Type: research
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