Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy

Autor: Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG.

Publikováno v: Human molecular genetics online (2021).
info:cnr-pdr/source/autori:Logli E, Marzuolo E, D'Agostino M, Conti LA, Lena AM, Diociaiuti A, Dellambra E, Has C, Cianfanelli V, Zambruno G, El Hachem M, Magenta A, Candi E, Condorelli AG./titolo:Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy/doi:/rivista:Human molecular genetics online/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume

Epidermolysis bullosa simplex (EBS) with cardiomyopathy (EBS-KLHL24) is an EBS subtype caused by dominantly inherited, gain-of-function mutations in the gene encoding for the ubiquitin-ligase KLHL24, which addresses specific proteins to proteasomal d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::9d53e658581ef5e93c7cee266c7f8c32
https://publications.cnr.it/doc/458707

A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.

Autor: Goldoni M; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Torres B; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Pettinato M; Unit of Dermatology, University Hospital, Policlinico Vittorio Emanuele, Catania, Italy., Gennaro A; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy., Biagini T; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Condorelli AG; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Monetta R; Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy., Mazza T; Bioinformatics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Bernardini L; Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy., Mattina T; Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, Catania, Italy.; Mediterranean Foundation 'G.B. Morgagni', Catania, Italy.

Publikováno v: Pediatric dermatology [Pediatr Dermatol] 2024 Oct 23. Date of Electronic Publication: 2024 Oct 23.

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

Autor: Diociaiuti A; Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Corbeddu M; Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Dermatology Clinic, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy., Rossi S; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pisaneschi E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cesario C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Condorelli AG; Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Samela T; Clinical Epidemiology Unit, IDI-IRCCS, Rome, Italy., Giancristoforo S; Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Angioni A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Zambruno G; Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Alaggio R; Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Abeni D; Clinical Epidemiology Unit, IDI-IRCCS, Rome, Italy., El Hachem M; Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Publikováno v: Dermatology (Basel, Switzerland) [Dermatology] 2024; Vol. 240 (3), pp. 397-413. Date of Electronic Publication: 2024 Apr 08.

SARS-CoV-2 infection of thymus induces loss of function that correlates with disease severity.

Autor: Rosichini M; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Bordoni V; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Cellular Immunology Laboratory, INMI L Spallanzani - IRCCS, Rome, Italy., Silvestris DA; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Mariotti D; Cellular Immunology Laboratory, INMI L Spallanzani - IRCCS, Rome, Italy., Matusali G; Virology Laboratory, INMI L Spallanzani - IRCCS, Rome, Italy., Cardinale A; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Zambruno G; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Condorelli AG; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Flamini S; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Genah S; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Catanoso M; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy., Del Nonno F; Pathology Unit, INMI L Spallanzani - IRCCS, Rome, Italy., Trezzi M; Cardiac Surgery Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Galletti L; Cardiac Surgery Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., De Stefanis C; Pathology Unit, Core Research Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Cicolani N; Confocal Microscopy Core Facility, Research Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Petrini S; Confocal Microscopy Core Facility, Research Center, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Quintarelli C; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Clinical Medicine and Surgery, University of Naples Federico II, Rome, Italy., Agrati C; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Cellular Immunology Laboratory, INMI L Spallanzani - IRCCS, Rome, Italy., Locatelli F; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Catholic University of the Sacred Heart, Rome, Italy., Velardi E; Department of Pediatric Hematology and Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: enrico.velardi@opbg.net.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2023 Apr; Vol. 151 (4), pp. 911-921. Date of Electronic Publication: 2023 Feb 08.

Combination Treatment with Hydroxytyrosol and Vitamin E Improves NAFLD-Related Fibrosis.

Autor: Panera N; Research Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Braghini MR; Research Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Crudele A; Research Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Smeriglio A; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Viale Ferdinando Stagno d'Alcontres 31, 98166 Messina, Italy., Bianchi M; Research Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Condorelli AG; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Nobili R; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Conti LA; Core Facilities, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., De Stefanis C; Core Facilities, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Lioci G; Department of Gastroenterology, Polytechnic University of Marche, 60121 Ancona, Italy., Gurrado F; Department of Gastroenterology, Polytechnic University of Marche, 60121 Ancona, Italy., Comparcola D; Unit of Hepatology, Gastroenterology, and Nutrition, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Mosca A; Unit of Hepatology, Gastroenterology, and Nutrition, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Sartorelli MR; Unit of Hepatology, Gastroenterology, and Nutrition, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Scoppola V; Research Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Svegliati-Baroni G; Liver Injury and Transplant Unit, Polytechnic University of Marche, 60121 Ancona, Italy.; Obesità Center, Polytechnic University of Marche, 60121 Ancona, Italy., Trombetta D; Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, Viale Ferdinando Stagno d'Alcontres 31, 98166 Messina, Italy., Alisi A; Research Unit of Molecular Genetics of Complex Phenotypes, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Publikováno v: Nutrients [Nutrients] 2022 Sep 14; Vol. 14 (18). Date of Electronic Publication: 2022 Sep 14.