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A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali, Muhammad; Khan, Shahid Y; Rodrigues, Tony A; Francisco, Tânia; Jiao, Xiaodong; Qi, Hang; Kabir, Firoz; Irum, Bushra; Rauf, Bushra; Khan, Asma A; Mehmood, Azra; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Ali, Muhammad Hassaan; Shahzad, Mohsin; Abu-Amero, Khaled K; Akram, Shehla Javed; Akram, Javed; Riazuddin, Sheikh; Riazuddin, Saima; Robinson, Michael L; Baes, Myriam; Azevedo, Jorge E; Hejtmancik, J Fielding; Riazuddin, S Amer.
Afiliação
  • Ali M; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
  • Khan SY; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
  • Rodrigues TA; Instituto de Biologia Celular E Molecular, Universidade Do Porto, Porto, Portugal.
  • Francisco T; Instituto de Investigação E Inovação Em Saúde, Universidade Do Porto, Porto, Portugal.
  • Jiao X; Instituto de Ciências Biomédicas Abel Salazar, Universidade Do Porto, Porto, Portugal.
  • Qi H; Instituto de Biologia Celular E Molecular, Universidade Do Porto, Porto, Portugal.
  • Kabir F; Instituto de Investigação E Inovação Em Saúde, Universidade Do Porto, Porto, Portugal.
  • Irum B; Instituto de Ciências Biomédicas Abel Salazar, Universidade Do Porto, Porto, Portugal.
  • Rauf B; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Khan AA; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
  • Mehmood A; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
  • Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Assir MZ; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
  • Ali MH; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Shahzad M; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA.
  • Abu-Amero KK; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Akram SJ; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Akram J; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Riazuddin S; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
  • Robinson ML; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
  • Baes M; Jinnah Burn and Reconstructive Surgery Center, Jinnah Hospital, Lahore, Pakistan.
  • Azevedo JE; Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
  • Hejtmancik JF; Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois, Chicago, IL, USA.
  • Riazuddin SA; Akram Medical Complex, Lahore, Pakistan.
Hum Genet ; 140(4): 649-666, 2021 Apr.
Article em En | MEDLINE | ID: mdl-33389129
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Mutação de Sentido Incorreto / Peroxissomos / Sinais de Orientação para Peroxissomos / Receptor 1 de Sinal de Orientação para Peroxissomos Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
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: Catarata / Mutação de Sentido Incorreto / Peroxissomos / Sinais de Orientação para Peroxissomos / Receptor 1 de Sinal de Orientação para Peroxissomos Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos