Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking

Autor: Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuck, Simon K. Law, Lorena Magraner-Pardo, Tirso Pons, Roman Polishchuck, Nicola Brunetti-Pierri

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)

Geleophysic dysplasia (GPHYSD1, MIM231050; GPHYSD2, MIM614185; GPHYSD3, MIM617809) is an autosomal disorder characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, and laryngotracheal stenosis. Mutations in ADAMTSL2, FBN1, and

Externí odkaz: https://doaj.org/article/5181fcc232a4426e85cde61b56cfdecf

Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha‐1‐anti‐trypsin deficiency

Autor: Nunzia Pastore, Keith Blomenkamp, Fabio Annunziata, Pasquale Piccolo, Pratibha Mithbaokar, Rosa Maria Sepe, Francesco Vetrini, Donna Palmer, Philip Ng, Elena Polishchuk, Simona Iacobacci, Roman Polishchuk, Jeffrey Teckman, Andrea Ballabio, Nicola Brunetti‐Pierri

Publikováno v: EMBO Molecular Medicine, Vol 5, Iss 3, Pp 397-412 (2013)

Abstract Alpha‐1‐anti‐trypsin deficiency is the most common genetic cause of liver disease in children and liver transplantation is currently the only available treatment. Enhancement of liver autophagy increases degradation of mutant, hepatoto

Externí odkaz: https://doaj.org/article/f439b5daf4144d6699e801b90df4847d

The Absence of Thyroid-Stimulating Hormone Receptor Expression on Natural Killer T Cells: Implications for the Immune–Endocrine Interaction.

Autor: Adamska-Fita, Emilia¹ (AUTHOR) emila0079@gmail.com, Śliwka, Przemysław Wiktor^1,2 (AUTHOR) p.sliwka87@gmail.com, Karbownik-Lewińska, Małgorzata^1,2 (AUTHOR) malgorzata.karbownik-lewinska@umed.lodz.pl, Lewiński, Andrzej¹ (AUTHOR) andrzej.lewinski@umed.lodz.pl, Stasiak, Magdalena¹ (AUTHOR) mstasiak33@gmail.com

Publikováno v: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11434. 12p.

Towards the use of laser capture microdissection for investigating plant meiosis

Autor: Barra L, Consiglio F, De Luca P, Di Lauro R, Mithbaokar P, Conicella C

Publikováno v: 50th Annual Congress of Italian Society of Agricultural Genetics, Ischia (Italy)., 2006
info:cnr-pdr/source/autori:Barra L, Consiglio F, De Luca P, Di Lauro R, Mithbaokar P, Conicella C/congresso_nome:50th Annual Congress of Italian Society of Agricultural Genetics,/congresso_luogo:Ischia (Italy)./congresso_data:2006/anno:2006/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::f76f9d700f0b7dcec2a084393d84fa72
http://www.cnr.it/prodotto/i/110783

Prospettive di utilizzazione del Laser Capture Microdissection per lo studio della meiosi in pianta

Autor: Barra L, Consiglio F, De Luca P, Di Lauro R, Mithbaokar P, Monti LM, Conicella C

Publikováno v: Giornate Scientifiche del Polo delle Scienze e delle Tecnologie per la vita, Facoltà di Medicina e Chirurgia, di Farmacia, di Medicina Veterinaria e Agraria, Napoli, 2006
info:cnr-pdr/source/autori:Barra L, Consiglio F, De Luca P, Di Lauro R, Mithbaokar P, Monti LM, Conicella C/congresso_nome:Giornate Scientifiche del Polo delle Scienze e delle Tecnologie per la vita, Facoltà di Medicina e Chirurgia, di Farmacia, di Medicina Veterinaria e Agraria/congresso_luogo:Napoli/congresso_data:2006/anno:2006/pagina_da:/pagina_a:/intervallo_pagine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::01da68b0484d2e7324868ebf916956fc
http://www.cnr.it/prodotto/i/110784