MUCOLIPIDOSES TYPE II AND III: MOLECULAR ANALYSIS OF THE GNPTAB AND GNPTG GENES IN 15 BRAZILIAN PATIENTS

被引：0
|
作者：
Cury, G. K. [1 ]
Velho, R. V. [1 ]
Alegra, T. [2 ]
Matte, U. [1 ]
Artigalas, O. [2 ]
Burin, M. [1 ]
Ribeiro, E. M. [3 ]
Lourenco, C. M. [4 ]
Kim, C. A. [5 ]
Valadares, E. R. [6 ]
Miguel, D. S. C. G. [7 ]
Acosta, A. X. [7 ]
Galera, M. F. [8 ]
Schwartz, I. V. D. [2 ]
机构：
[1] Hosp Clin Porto Alegre, Porto Alegre, RS, Brazil
[2] Univ Fed Rio Grande do Sul, Porto Alegre, RS, Brazil
[3] Ass Gen Dis State Ceara, Fortaleza, Ceara, Brazil
[4] Univ Fed Sao Paulo, Ribeirao Preto, Brazil
[5] Univ Fed Sao Paulo, Sao Paulo, Brazil
[6] Univ Fed Minas Gerais, Belo Horizonte, MG, Brazil
[7] Univ Fed Bahia, Salvador, BA, Brazil
[8] Univ Cuiaba, Cuiaba, Brazil
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2011年 / 34卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S206 / S206
页数：1
相关论文
共 50 条
  • [1] Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations
    Encarnacao, M.
    Lacerda, L.
    Costa, R.
    Prata, M. J.
    Coutinho, M. F.
    Ribeiro, H.
    Lopes, L.
    Pineda, M.
    Ignatius, J.
    Galvez, H.
    Mustonen, A.
    Vieira, P.
    Lima, M. R.
    Alves, S.
    CLINICAL GENETICS, 2009, 76 (01) : 76 - 84
  • [2] MUTATIONAL ANALYSIS OF GNPTAB AND GNPTG GENES IN MUCOLIPIDOSIS II AND III AND IN VITRO CORRECTION OF THE CORRESPONDING PHENOTYPES
    Zarghooni, M.
    Dittakavi, S. R.
    JOURNAL OF NEUROCHEMISTRY, 2009, 108 : 100 - 100
  • [3] GNPTG VARIATION IN ML II/III BRAZILIAN PATIENTS
    Velho, R. V.
    Artigalas, O. A.
    Cury, G. K. C.
    Alegra, T. A.
    Matte, U. S. M.
    Braulke, T. B.
    Schwartz, I. V. D. S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S105 - S105
  • [4] The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
    Velho, Renata Voltolini
    Harms, Frederike L.
    Danyukova, Tatyana
    Ludwig, Nataniel F.
    Friez, Michael J.
    Cathey, Sara S.
    Filocamo, Mirella
    Tappino, Barbara
    Gunes, Nilay
    Tuysuz, Beyhan
    Tylee, Karen L.
    Brammeier, Kathryn L.
    Heptinstall, Lesley
    Oussoren, Esmee
    van der Ploeg, Ans T.
    Petersen, Christine
    Alves, Sandra
    Duran Saavedra, Gloria
    Schwartz, Ida V.
    Muschol, Nicole
    Kutsche, Kerstin
    Pohl, Sandra
    HUMAN MUTATION, 2019, 40 (07) : 842 - 864
  • [5] Mucolipidoses II and III: Clinical and molecular characterization
    Cathey, Sara
    Friez, Michael
    Draper, Karisa
    Leroy, Jules
    MOLECULAR GENETICS AND METABOLISM, 2007, 92 (04) : S28 - S28
  • [6] Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
    Di Lorenzo, Giorgia
    Westermann, Lena M.
    Yorgan, Timur A.
    Stuerznickel, Julian
    Ludwig, Nataniel F.
    Ammer, Luise S.
    Baranowsky, Anke
    Ahmadi, Shiva
    Pourbarkhordariesfandabadi, Elham
    Breyer, Sandra R.
    Board, Tim N.
    Foster, Anne
    Mercer, Jean
    Tylee, Karen
    Velho, Renata Voltolini
    Schweizer, Michaela
    Renne, Thomas
    Braulke, Thomas
    Randon, Devora N.
    Sperb-Ludwig, Fernanda
    de Camargo Pinto, Louise Lapagesse
    Moreno, Carolina Araujo
    Cavalcanti, Denise P.
    Amling, Michael
    Kutsche, Kerstin
    Winter, Dominic
    Muschol, Nicole M.
    Schwartz, Ida V. D.
    Rolvien, Tim
    Danyukova, Tatyana
    Schinke, Thorsten
    Pohl, Sandra
    GENETICS IN MEDICINE, 2021, 23 (12) : 2369 - 2377
  • [7] Development of new treatment strategies for mucolipidosis types II and III: a study focusing on premature degradation of GNPTAB and GNPTG mRNA
    Schwartz, Ida V. D.
    Velho, Renata V.
    Ludwig, Fernanda S.
    Alegra, Taciane
    MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S94 - S94
  • [8] Mutation analysis of GNPTAB gene in 24 japanese mucolipidosis II and III patients
    Otomo, T. O.
    Muramatsu, T. M.
    Inui, K. I.
    Yorifuji, T. Y.
    Nakabayashi, H. N.
    Ohura, T. O.
    Yoshino, M. Y.
    Tanaka, A. T.
    Okuyama, T. O.
    Ozono, K. O.
    Sakai, N. S.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 100 - 100
  • [9] Mutational analysis of the GNPTG gene in patients with mucolipidosis III
    Pittis, M. G.
    Persichetti, E.
    Montalvo, A.
    Balducci, C.
    Parenti, G.
    Sibilio, M.
    Filocamo, M.
    Parini, R.
    Rigoldi, M.
    Dominissini, S.
    Codini, M.
    Bembi, B.
    Beccari, T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 101 - 101
  • [10] Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
    Cury, G. K.
    Matte, U.
    Artigalas, O.
    Alegra, T.
    Velho, R. V.
    Sperb, F.
    Burin, M. G.
    Ribeiro, E. M.
    Lourenco, C. M.
    Kim, C. A.
    Valadares, E. R.
    Galera, M. F.
    Acosta, A. X.
    Schwartz, I. V. D.
    GENE, 2013, 524 (01) : 59 - 64
12345