MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

Lindert, Uschi; Cabral, Wayne A; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon; Makareeva, Elena N; Janecke, Andreas R; Leikin, Sergey; Röthlisberger, Benno; Rohrbach, Marianne; Kennerknecht, Ingo; Eyre, David R; Suphapeetiporn, Kanya; Giunta, Cecilia; Marini, Joan C; Shotelersuk, Vorasuk

Lindert, Uschi; Cabral, Wayne A; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon; Makareeva, Elena N; Janecke, Andreas R; Leikin, Sergey; Röthlisberger, Benno; Rohrbach, Marianne; Kennerknecht, Ingo; Eyre, David R; Suphapeetiporn, Kanya; Giunta, Cecilia; Marini, Joan C; Shotelersuk, Vorasuk.

Afiliação

Lindert U; Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital Zurich, Zurich 8032, Switzerland.
Cabral WA; Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Ausavarat S; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Tongkobpetch S; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.
Ludin K; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Barnes AM; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.
Yeetong P; Center for Laboratory Medicine, Department of Medical Genetics, Kantonsspital Aarau, Aarau 5001, Switzerland.
Weis M; Section on Heritable Disorders of Bone and Extracellular Matrix, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Krabichler B; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Srichomthong C; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.
Makareeva EN; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, Washington 98195, USA.
Janecke AR; Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria.
Leikin S; Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
Röthlisberger B; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok 10330, Thailand.
Rohrbach M; Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Kennerknecht I; Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria.
Eyre DR; Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria.
Suphapeetiporn K; Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
Giunta C; Center for Laboratory Medicine, Department of Medical Genetics, Kantonsspital Aarau, Aarau 5001, Switzerland.
Marini JC; Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital Zurich, Zurich 8032, Switzerland.
Shotelersuk V; Institute of Human Genetics, Westfälische Wilhelms University, Münster 48149, Germany.

Nat Commun ; 7: 11920, 2016 07 06.

Article em En | MEDLINE | ID: mdl-27380894

Assuntos

Membrana Celular/patologia; Colágeno Tipo I/genética; Metaloendopeptidases/genética; Mutação de Sentido Incorreto; Osteoblastos/metabolismo; Osteogênese Imperfeita/genética; Fator 6 Ativador da Transcrição/genética; Fator 6 Ativador da Transcrição/metabolismo; Adulto; Idoso; Diferenciação Celular; Membrana Celular/metabolismo; Colágeno Tipo I/deficiência; Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética; Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/metabolismo; Regulação da Expressão Gênica; Genes Recessivos; Humanos; Hidroxilação; Masculino; Metaloendopeptidases/metabolismo; Pessoa de Meia-Idade; Proteínas do Tecido Nervoso/genética; Proteínas do Tecido Nervoso/metabolismo; Osteoblastos/patologia; Osteogênese Imperfeita/metabolismo; Osteogênese Imperfeita/patologia; Linhagem; Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/genética; Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/metabolismo; Proteólise; Índice de Gravidade de Doença; Proteínas de Ligação a Elemento Regulador de Esterol/genética; Proteínas de Ligação a Elemento Regulador de Esterol/metabolismo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteoblastos / Osteogênese Imperfeita / Metaloendopeptidases / Membrana Celular / Mutação de Sentido Incorreto / Colágeno Tipo I Tipo de estudo: Prognostic_studies Limite: Adult / Aged / Humans / Male / Middle aged Idioma: En Revista: Nat Commun Assunto da revista: BIOLOGIA / CIENCIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Suíça País de publicação: Reino Unido

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