Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX.

Ghosh, Debasish Kumar; Udupa, Prajna; Shrikondawar, Akshaykumar Nanaji; Bhavani, Gandham SriLakshmi; Shah, Hitesh; Ranjan, Akash; Girisha, Katta M

Ghosh, Debasish Kumar; Udupa, Prajna; Shrikondawar, Akshaykumar Nanaji; Bhavani, Gandham SriLakshmi; Shah, Hitesh; Ranjan, Akash; Girisha, Katta M.

Afiliação

Ghosh DK; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India. Electronic address: debasish.kumar@manipal.edu.
Udupa P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India.
Shrikondawar AN; Computational and Functional Genomics Group, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500039, Telangana, India.
Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India.
Shah H; Department of Pediatric Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India.
Ranjan A; Computational and Functional Genomics Group, Centre for DNA Fingerprinting and Diagnostics, Hyderabad 500039, Telangana, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India. Electronic address: girish.katta@manipal.edu.

Matrix Biol ; 115: 81-106, 2023 01.

Article em En | MEDLINE | ID: mdl-36526215

Assuntos

Colágeno Tipo I; Osteogênese Imperfeita; Humanos; Colágeno Tipo I/genética; Colágeno Tipo I/metabolismo; Osteogênese Imperfeita/genética; Osteogênese Imperfeita/metabolismo; Chaperonas Moleculares/genética; Chaperonas Moleculares/metabolismo; Mutação; Membrana Celular/metabolismo

Palavras-chave

Autophagy; MESD; Osteogenesis imperfecta; Protein aggregation; Proteostasis imbalance; Type I collagen

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Colágeno Tipo I Limite: Humans Idioma: En Revista: Matrix Biol Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA Ano de publicação: 2023 Tipo de documento: Article

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