Výsledky vyhledávání - "Mithbaokar P."

Akademický článek

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

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Akademický článek

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Autor: Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 9, Pp n/a-n/a (2019)

Abstract Background Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes. Me

Externí odkaz: https://doaj.org/article/42b6c438eba842e49075dd898d23d7e7

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Akademický článek

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

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Akademický článek

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