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Gene therapy and gene correction: targets, progress, and challenges for treating human diseases

Gene therapy, 2022-02, Vol.29 (1-2), p.3-12

2022

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The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane

PLoS genetics, 2016-02, Vol.12 (2), p.e1005890-e1005890

2016

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Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome

Human molecular genetics, 2021-03, Vol.30 (1), p.87-102

2021

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Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Ophthalmology (Rochester, Minn.), 2017-09, Vol.124 (9), p.1314-1331

2017

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Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future

Progress in retinal and eye research, 2022-07, Vol.89, p.101035-101035, Article 101035

2022

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Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins

PLoS genetics, 2015-06, Vol.11 (6), p.e1005311-e1005311

2015

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A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

PLoS genetics, 2011-11, Vol.7 (11), p.e1002358-e1002358

2011

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BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

PLoS genetics, 2017-10, Vol.13 (10), p.e1007057-e1007057

2017

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Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

American journal of human genetics, 2011-05, Vol.88 (5), p.599-607

2011

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A 30-Mile-per-Hour Headwind

JAMA : the journal of the American Medical Association, 2018-07, Vol.320 (1), p.33

Sheffield, Val C.

2018

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Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

Journal of medical genetics, 2017-09, Vol.54 (9), p.633-639

2017

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ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

Proceedings of the National Academy of Sciences - PNAS, 2012-11, Vol.109 (48), p.19691-19696

2012

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Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome

Proceedings of the National Academy of Sciences - PNAS, 2015-08, Vol.112 (32), p.E4400-E4409

2015

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Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo

Proceedings of the National Academy of Sciences - PNAS, 2016-06, Vol.113 (25), p.E3492-E3500

2016

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Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

The Journal of biological chemistry, 2012-06, Vol.287 (24), p.20625-20635

2012

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Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma

Investigative ophthalmology & visual science, 2017-04, Vol.58 (4), p.2054-2062

2017

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ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load

Nature communications, 2020-11, Vol.11 (1), p.5594-14, Article 5594

2020

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CRISPR-Cas9–based treatment of myocilin-associated glaucoma

Proceedings of the National Academy of Sciences - PNAS, 2017-10, Vol.114 (42), p.11199-11204

2017

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Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

Proceedings of the National Academy of Sciences - PNAS, 2011-02, Vol.108 (7), p.2759-2764

2011

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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Human molecular genetics, 2012-05, Vol.21 (9), p.1945-1953

2012

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BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Proceedings of the National Academy of Sciences - PNAS, 2010-01, Vol.107 (4), p.1488-1493

2010

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Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model

PloS one, 2018-02, Vol.13 (2), p.e0192755

2018

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An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

Genes & development, 2011-11, Vol.25 (22), p.2347-2360

2011

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Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

The Journal of clinical investigation, 2011-09, Vol.121 (9), p.3542-3553

2011

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Gene therapy and gene correction: targets, progress, and challenges for treating human diseases

The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane

Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1

A 30-Mile-per-Hour Headwind

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome

Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma

ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load

CRISPR-Cas9–based treatment of myocilin-associated glaucoma

Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma

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