Deletion of the phosphatase INPP5E in the murine retina impairs photoreceptor axoneme formation and prevents disc morphogenesis.

Sharif, Ali S; Gerstner, Cecilia D; Cady, Martha A; Arshavsky, Vadim Y; Mitchell, Christina; Ying, Guoxin; Frederick, Jeanne M; Baehr, Wolfgang

Sharif, Ali S; Gerstner, Cecilia D; Cady, Martha A; Arshavsky, Vadim Y; Mitchell, Christina; Ying, Guoxin; Frederick, Jeanne M; Baehr, Wolfgang.

Afiliação

Sharif AS; Department of Ophthalmology, University of Utah Health Science Center, Salt Lake City, Utah, USA.
Gerstner CD; Department of Ophthalmology, University of Utah Health Science Center, Salt Lake City, Utah, USA.
Cady MA; Department of Ophthalmology, Duke University, Durham, North Carolina, USA.
Arshavsky VY; Department of Ophthalmology, Duke University, Durham, North Carolina, USA.
Mitchell C; Department of Biochemistry and Molecular Biology, Monash University, Clayton, Victoria, Australia.
Ying G; Department of Ophthalmology, University of Utah Health Science Center, Salt Lake City, Utah, USA.
Frederick JM; Department of Ophthalmology, University of Utah Health Science Center, Salt Lake City, Utah, USA.
Baehr W; Department of Ophthalmology, University of Utah Health Science Center, Salt Lake City, Utah, USA; Department of Neurobiology & Anatomy, University of Utah, Salt Lake City, Utah, USA; Department of Biology, University of Utah, Salt Lake City, Utah, USA. Electronic address: wbaehr@hsc.utah.edu.

J Biol Chem ; 296: 100529, 2021.

Article em En | MEDLINE | ID: mdl-33711342

Assuntos

Axonema/patologia; Morfogênese; Monoéster Fosfórico Hidrolases/fisiologia; Retina/patologia; Células Fotorreceptoras Retinianas Cones/patologia; Degeneração Retiniana/patologia; Células Fotorreceptoras Retinianas Bastonetes/patologia; Animais; Axonema/metabolismo; Proteínas do Olho/fisiologia; Camundongos; Camundongos Knockout; Transporte Proteico; Retina/metabolismo; Células Fotorreceptoras Retinianas Cones/metabolismo; Degeneração Retiniana/etiologia; Células Fotorreceptoras Retinianas Bastonetes/metabolismo

Palavras-chave

INPP5E; Joubert syndrome; axoneme; connecting cilium; disc morphogenesis; retina degeneration; rod and cone photoreceptors

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Retina / Degeneração Retiniana / Células Fotorreceptoras Retinianas Bastonetes / Células Fotorreceptoras Retinianas Cones / Monoéster Fosfórico Hidrolases / Axonema / Morfogênese Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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