GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Autor: Ludwig NF; Center of Gene Therapy, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Velho RV; Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Sperb-Ludwig F; Center of Gene Therapy, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Acosta AX; Universidade Federal da Bahia, Salvador, Brazil., Ribeiro EM; Faculdade de Medicina do Centro Universitário Christus, Fortaleza, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil., Gandelman Horovitz DD; National Institute for Women's, Children's and Adolescents' Health Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil., Boy R; Pediatrics Department, Hospital Universitário Pedro Ernesto, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil., Rodovalho-Doriqui MJ; Juvêncio Mattos Children's Hospital, São Luiz, Maranhão, Brazil., Lourenço CM; Ribeirão Preto Clinics Hospital, Universidade de São Paulo, Ribeirão Preto, Brazil., Santos ES; Universidade Federal de Sergipe, Lagarto, Brazil., Braulke T; Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: s.pohl@uke.de., Schwartz IVD; BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Electronic address: ischwartz@hcpa.edu.br.

Publikováno v: The international journal of biochemistry & cell biology [Int J Biochem Cell Biol] 2017 Nov; Vol. 92, pp. 90-94. Date of Electronic Publication: 2017 Sep 14.