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Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.
Lim, Jung Hwa; Kang, Hyun Mi; Jung, Hong-Ryul; Kim, Dae-Soo; Noh, Kyung Hee; Chang, Tae Kyung; Kim, Byoung Joon; Sung, Duk Hyun; Cho, Hyun-Soo; Chung, Kyung-Sook; Kim, Nam-Soon; Jung, Cho-Rok.
Afiliação
  • Lim JH; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea.
  • Kang HM; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea.
  • Jung HR; New Drug Development Center, Daegu- Gyeongbuk Medical Innovation Foundation, Daegu, Republic of Korea.
  • Kim DS; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea; Department of Functional Genomics, Korea University of Science and Technology (UST), 217 Gajeong-ro, Daejeon, Republic of Korea.
  • Noh KH; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea.
  • Chang TK; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea.
  • Kim BJ; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea; Neuroscience Center, Samsung Medical Center, Seoul 06351, Republic of Korea.
  • Sung DH; Department of Physical and Rehabilitation Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnamgu, Seoul 06351, Republic of Korea.
  • Cho HS; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea; Department of Functional Genomics, Korea University of Science and Technology (UST), 217 Gajeong-ro, Daejeon, Republic of Korea.
  • Chung KS; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea; Department of Functional Genomics, Korea University of Science and Technology (UST), 217 Gajeong-ro, Daejeon, Republic of Korea.
  • Kim NS; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea; Department of Functional Genomics, Korea University of Science and Technology (UST), 217 Gajeong-ro, Daejeon, Republic of Korea.
  • Jung CR; Korea Research Institute of Bioscience and Biotechnology (KRIBB), 125 Gwahak-ro, Daejeon, Republic of Korea; Department of Functional Genomics, Korea University of Science and Technology (UST), 217 Gajeong-ro, Daejeon, Republic of Korea. Electronic address: crjung@kribb.re.kr.
Biochim Biophys Acta Mol Basis Dis ; 1864(10): 3221-3233, 2018 10.
Article em En | MEDLINE | ID: mdl-30006150
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Mutação de Sentido Incorreto / Espastina Limite: Animals / Female / Humans / Male Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Mutação de Sentido Incorreto / Espastina Limite: Animals / Female / Humans / Male Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda