The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Autor: Deneubourg, Celine, Ramm, Mauricio, Smith, Luke J., Baron, Olga, Singh, Kritarth, Byrne, Susan C., Duchen, Michael R., Gautel, Mathias, Eskelinen, Eeva-Liisa, Fanto, Manolis, Jungbluth, Heinz

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the autophagy machinery or closely related proteins have recently emerged as an important cause of genetic disease. This novel group of human disorders may present

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http://hdl.handle.net/10138/345994

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The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Autor: Deneubourg C; Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK., Ramm M; Institute of Biomedicine, University of Turku, Turku, Finland., Smith LJ; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, UK., Baron O; Wolfson Centre for Age-Related Diseases, King's College London, London, UK., Singh K; Department of Cell and Developmental Biology, University College London, London, UK., Byrne SC; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK., Duchen MR; Department of Cell and Developmental Biology, University College London, London, UK., Gautel M; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, UK., Eskelinen EL; Institute of Biomedicine, University of Turku, Turku, Finland.; Molecular and Integrative Biosciences Research Programme, University of Helsinki, Helsinki, Finland., Fanto M; Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK., Jungbluth H; Department of Basic and Clinical Neuroscience, IoPPN, King's College London, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College London, London, UK.; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

Publikováno v: Autophagy [Autophagy] 2022 Mar; Vol. 18 (3), pp. 496-517. Date of Electronic Publication: 2021 Aug 19.