Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Autor: Weissner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Rooper, H, Phadke, R, Bettolo, CM, Barresi, R, Charlton, R, Boennemann, CG, Neto, OA, Reed, UC, Zanoteli, E, Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges Da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, RP, Thiele, S, Mueller, J, Kingston, H, Mueller, S, Curtis, E, Walter, MC, Strom, T, Straub, V, Bushby, K, Muntoni, F, Swan, LE, Lochmueller, H, Senderek, J

Publikováno v: Wiessner, M, Roos, A, Munn, C J, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Roper, H, Phadke, R, Marini Bettolo, C, Barresi, R, Charlton, R, Bönnemann, C G, Abath Neto, O, Reed, U C, Zanoteli, E, Araújo Martins Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges da Silva, T, Hathazi, D, Dell'Aica, M, Zahedi, R P, Thiele, S, Müller, J, Kingston, H, Müller, S, Curtis, E, Walter, M C, Strom, T M, Straub, V, Bushby, K, Muntoni, F, Swan, L E, Lochmüller, H & Senderek, J 2017, ' Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment ', American Journal of Human Genetics, vol. 100, no. 3, pp. 523-536 . https://doi.org/10.1016/j.ajhg.2017.01.024
American Journal of Human Genetics

Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0682e787e901e932f48d2c10fd006e05

Extracellular Vesicles isolated from Mesenchymal Stromal Cells Modulate CD4 ⁺ T Lymphocytes Toward a Regulatory Profile.

Autor: Franco da Cunha F; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil., Andrade-Oliveira V; Departamento de Imunologia, USP, Avenida Prof. Lineu Prestes 1730, ICB IV, São Paulo 05508-000, Brazil., Candido de Almeida D; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil., Borges da Silva T; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil., Naffah de Souza Breda C; Departamento de Imunologia, USP, Avenida Prof. Lineu Prestes 1730, ICB IV, São Paulo 05508-000, Brazil., Costa Cruz M; Departamento de Imunologia, USP, Avenida Prof. Lineu Prestes 1730, ICB IV, São Paulo 05508-000, Brazil., Faquim-Mauro EL; Laboratório de Imunopatologia, Instituto Butantan, Av. Vital Brasil 1500, São Paulo 05503-900, Brazil., Antonio Cenedeze M; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil., Ioshie Hiyane M; Departamento de Imunologia, USP, Avenida Prof. Lineu Prestes 1730, ICB IV, São Paulo 05508-000, Brazil., Pacheco-Silva A; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil.; Hospital Israelita Albert Einstein, Av. Albert Einstein, São Paulo 627-05652-900, Brazil., Aparecida Cavinato R; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil., Torrecilhas AC; Departamento de Ciências Farmacêuticas, UNIFESP, Rua São Nicolau 210, Diadema 09913-030, São Paulo, Brazil., Olsen Saraiva Câmara N; Departamento de Nefrologia, UNIFESP, Rua Pedro de Toledo 669, São Paulo 04039-032, Brazil.; Departamento de Imunologia, USP, Avenida Prof. Lineu Prestes 1730, ICB IV, São Paulo 05508-000, Brazil.

Publikováno v: Cells [Cells] 2020 Apr 23; Vol. 9 (4). Date of Electronic Publication: 2020 Apr 23.