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

Calcium binding proteins mediate dioxin-induced motor deficit in sheep

Autor: COSTAGLIOLA, ANNA, F. Fiorito, P. Mithbaokar, S. Damiano, V. Maharajan

Introduction: Sheep from environmental dioxin contaminated areas show motor discoordination suggesting a pathophysiology in cerebellar function. Since Calcium binding proteins are known to play a role in the Ca2+ homeostasis in neurons and during neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::ae19d9f55bd67016af905ae81ead054d
http://hdl.handle.net/11588/584938

Espressione del gene SERT nello sviluppo embrionale del cervello nel topo

Autor: R. Lo Muto, PAVONE, LUIGI MICHELE, P. Mithbaokar, A. Spina, TAFURI, SIMONA, E. Alimenti, V. Maharajan, LOMBARDI, PIETRO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::8fb6d748398e90fea83d1c8cce0420f7
http://hdl.handle.net/11588/300140

Expression of the serotonin transporter (SERT) gene during mouse development

Autor: Vincenzo Mastellone, Luigi Avallone, Luigi Michele Pavone, G. Paino, Veeramani Maharajan, R. Lo Muto, Anna Spina, P. Mithbaokar

Publikováno v: info:cnr-pdr/source/autori:Pavone LM, Mithbaokar P, Mastellone V, Lo Muto R, Spina A, Maharajan V, Paino G, and Avallone L./congresso_nome:/congresso_luogo:/congresso_data:2008/anno:2008/pagina_da:/pagina_a:/intervallo_pagine
Veterinary research communications 32 (2008): S167.
info:cnr-pdr/source/autori:Pavone LM, Mithbaokar P, Mastellone V, Lo Muto R, Spina A, Maharajan V, Paino G, and Avallone L./titolo:Expression of the serotonin transporter (SERT) gene during mouse development/doi:/rivista:Veterinary research communications/anno:2008/pagina_da:S167/pagina_a:/intervallo_pagine:S167/volume:32

Expression of the serotonin transporter (SERT) gene during mouse development L. M. Pavone & P. Mithbaokar & V. Mastellone & R. Lo Muto & A. Spina & V. Maharajan & G. Paino & L. Avallone Published online: 7 August 2008 # Springer Science + Business Me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::493ecffaa8041f28549e670fd8521eae
http://hdl.handle.net/11588/482510