Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.


Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
04 03 2020
Historique:
received: 08 09 2019
accepted: 19 02 2020
entrez: 6 3 2020
pubmed: 7 3 2020
medline: 27 11 2020
Statut: epublish

Résumé

Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction. We studied dysbindin-1 null mutant mice (Dys

Identifiants

pubmed: 32132582
doi: 10.1038/s41598-020-60931-5
pii: 10.1038/s41598-020-60931-5
pmc: PMC7055265
doi:

Substances chimiques

MicroRNAs 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3972

Références

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Auteurs

Giovanni Luca Romano (GL)

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, USA.
Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Gian Marco Leggio (GM)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.
Center for Research in Ocular Pharmacology-CERFO, University of Catania, Catania, Italy.

Sebastiano Alfio Torrisi (SA)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Salvatore Giunta (S)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Salvatore Salomone (S)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.
Center for Research in Ocular Pharmacology-CERFO, University of Catania, Catania, Italy.

Michele Purrello (M)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Marco Ragusa (M)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.
Oasi Research Institute - IRCCS, Troina, Italy.

Cristina Barbagallo (C)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.

Frank J Giblin (FJ)

Eye Research Institute, Oakland University, Rochester, Michigan, USA.

Rosa Mastrogiacomo (R)

Genetics of Cognition Laboratory, Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova, Italy.

Francesca Managò (F)

Genetics of Cognition Laboratory, Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova, Italy.

Maurizio Cammalleri (M)

Department of Biology, University of Pisa, Pisa, Italy.

Francesco Papaleo (F)

Genetics of Cognition Laboratory, Department of Neuroscience and Brain Technologies, Istituto Italiano di Tecnologia, Genova, Italy.

Filippo Drago (F)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy.
Center for Research in Ocular Pharmacology-CERFO, University of Catania, Catania, Italy.

Claudio Bucolo (C)

Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, Catania, Italy. claudio.bucolo@unict.it.
Center for Research in Ocular Pharmacology-CERFO, University of Catania, Catania, Italy. claudio.bucolo@unict.it.
Eye Research Institute, Oakland University, Rochester, Michigan, USA. claudio.bucolo@unict.it.

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