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Ethylmalonic encephalopathy ETHE1 p. D165H mutation alters the mitochondrial function in human skeletal muscle proteome.
Sathe, Gajanan; Deepha, Sekar; Gayathri, Narayanappa; Nagappa, Madhu; Parayil Sankaran, Bindu; Taly, Arun B; Khanna, Tripti; Pandey, Akhilesh; Govindaraj, Periyasamy.
Afiliação
  • Sathe G; Institute of Bioinformatics, International Tech Park, Bangalore, India; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Manipal Academy of Higher Education, Manipal, India.
  • Deepha S; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
  • Gayathri N; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
  • Nagappa M; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
  • Parayil Sankaran B; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Genetic Metabolic Disorders Services, Children's Hosp
  • Taly AB; Neuromuscular Laboratory, Neurobiology Research Center, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
  • Khanna T; Indian Council of Medical Research (ICMR), New Delhi, India.
  • Pandey A; Institute of Bioinformatics, International Tech Park, Bangalore, India; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Manipal Academy of Higher Education, Manipal, India.
  • Govindaraj P; Institute of Bioinformatics, International Tech Park, Bangalore, India; Center for Molecular Medicine, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Manipal Academy of Higher Education, Manipal, India. Electronic address: govindaraj@ibioinformatics.org.
Mitochondrion ; 58: 64-71, 2021 05.
Article em En | MEDLINE | ID: mdl-33639274
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Púrpura / Músculo Esquelético / Encefalopatias Metabólicas Congênitas / Proteoma / Proteínas de Transporte Nucleocitoplasmático / Proteínas Mitocondriais / Mitocôndrias Musculares / Proteínas Musculares / Mutação Limite: Adult / Humans / Male Idioma: En Revista: Mitochondrion Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Índia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Púrpura / Músculo Esquelético / Encefalopatias Metabólicas Congênitas / Proteoma / Proteínas de Transporte Nucleocitoplasmático / Proteínas Mitocondriais / Mitocôndrias Musculares / Proteínas Musculares / Mutação Limite: Adult / Humans / Male Idioma: En Revista: Mitochondrion Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Índia