Robert S. Molday - Publications, H-index & Citations

Robert S. Molday

University of British Columbia

83H指数

316论文数

2.0W被引数

收录论文 112

发表时间

Lipid nanoparticle mediated base editing of the Q344X rhodopsin mutation associated with retinitis pigmentosa 脂质纳米颗粒介导的与视网膜色素变性相关的Q344X视蛋白突变的碱基编辑

GENE THERAPY

IF4.5

2025-12-01

PREAI

Palmgren, Victoria A. C.; Cheng, Miffy Hok Yan; Zhang, Yao; Carlaw, Tiffany; Morin, Tessa; Leung, Jerry; Ross, Colin Jd; Cullis, Pieter R.; Molday, Robert S.

Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models Stargardt疾病的视网膜基因治疗采用双AAV intein载体，在大型动物模型中既安全又有效。

SCIENCE ADVANCES

IF12.5

2025-03-28

PREAI

Ferla, Rita; Pugni, Eugenio; Lupo, Mariangela; Tiberi, Paola; Fioretto, Federica; Perota, Andrea; Duchi, Roberto; Lagutina, Irina; Gesualdo, Carlo; Rossi, Settimio; Ventrella, Domenico; Elmi, Alberto; Mcclinton, Benjamin; Toomes, Carmel; Xu, Tongzhou; Molday, Robert S.; Surace, Enrico M.; Bacci, Maria L.; Galli, Cesare; Memon, Muhammad A.; Shams, Naveed; Auricchio, Alberto; Trapani, Ivana

Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging 使用眼底 autofluorescence 成像量化 ABCA4 双缺失携带者中 Stargardt 疾病的进展

TRANSLATIONAL VISION SCIENCE & TECHNOLOGY

IF2.6

2025-03-17

OAAI

Mihalek, Ivana; De Bruyn, Hanna; Glavan, Tomislav; Lancos, Annie M.; Ciolfi, Caitlin M.; Malendowicz, Katarzyna; Aslaksen, Sigrid; Molday, Laurie L.; Molday, Robert S.; Fulton, Anne B.

Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt disease

COMMUNICATIONS MEDICINE

IF6.3

2025-01-21

OAAI

Karjosukarso, Dyah W.; Bukkems, Femke; Duijkers, Lonneke; Tomkiewicz, Tomasz Z.; Kiefmann, Julia; Sarlea, Andrei; Bervoets, Sander; Vazquez-Dominguez, Irene; Molday, Laurie L.; Molday, Robert S.; Netea, Mihai G.; Hoyng, Carel B.; Garanto, Alejandro; Collin, Rob W. J.

Structural and functional properties of the N- and C-terminal segments of the P4-ATPase phospholipid flippase ATP8A2

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2025-01-01

PREAI

Matsell, Eli; Mazaheri, Moloud; Andersen, Jens Peter; Molday, Robert S.

Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2024-09-01

OAAI

Scortecci, Jessica Fernandes; Garces, Fabian A.; Mahto, Jai K.; Molday, Laurie L.; Van Petegem, Filip; Molday, Robert S.

The Surviving, Not Thriving, Photoreceptors in Patients with ABCA4 Stargardt Disease

DIAGNOSTICS

IF3.3

2024-07-17

OAAI

De Bruyn, Hanna; Johnson, Megan; Moretti, Madelyn; Ahmed, Saleh; Mujat, Mircea; Akula, James D.; Glavan, Tomislav; Mihalek, Ivana; Aslaksen, Sigrid; Molday, Laurie L.; Molday, Robert S.; Berkowitz, Bruce A.; Fulton, Anne B.

Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases

DISEASE MODELS & MECHANISMS

IF3.3

2024-04-24

OAAI

Matsell, Eli; Andersen, Jens Peter; Molday, Robert S.

A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia

AMERICAN JOURNAL OF HEMATOLOGY

IF9.9

2023-09-06

OAAI

van Dijk, Myrthe J.; van Oirschot, Brigitte A.; Harrison, Alexander N.; Recktenwald, Steffen M.; Qiao, Min; Stommen, Amaury; Cloos, Anne-Sophie; Vanderroost, Juliette; Terrasi, Romano; Dey, Kuntal; Bos, Jennifer; Rab, Minke A. E.; Bogdanova, Anna; Minetti, Giampaolo; Muccioli, Giulio G.; Tyteca, Donatienne; Egee, Stephane; Kaestner, Lars; Molday, Robert S.; van Beers, Eduard J.; van Wijk, Richard

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2023-08-16

OAAI

Kaltak, Melita; Blanco-Garavito, Rocio; Molday, Laurie L.; Dhaenens, Claire-Marie; Souied, Eric E.; Platenburg, Gerard; Swildens, Jim; Molday, Robert S.; Cremers, Frans P. M.

Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2023-05-01

OAAI

Xu, Tongzhou; Molday, Laurie L.; Molday, Robert S.

Electrogenic reaction step and phospholipid translocation pathway of the mammalian P4-ATPase ATP8A2

FEBS LETTERS

IF3

2022-08-09

OAAI

Tadini-Buoninsegni, Francesco; Mikkelsen, Stine A.; Mogensen, Louise S.; Holm, Rikke; Molday, Robert S.; Andersen, Jens Peter

Low signaling efficiency from receptor to effector in olfactory transduction: A quantified ligand-triggered GPCR pathway 嗅觉转导中从受体到效应物的低信号传导效率: 量化的配体触发的GPCR途径

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2022-08-01

OAAI

Li, Rong-Chang; Molday, Laurie L.; Lin, Chih-Chun; Ren, Xiaozhi; Fleischmann, Alexander; Molday, Robert S.; Yau, King-Wai

Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration ABCA4的结构和功能及其在视觉周期和Stargardt黄斑变性中的作用

PROGRESS IN RETINAL AND EYE RESEARCH

IF14.7

2022-07-01

PREAI

Molday, Robert S.; Garces, Fabian A.; Scortecci, Jessica Fernandes; Molday, Laurie L.

Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease

NATURE COMMUNICATIONS

IF15.7

2021-10-08

OAAI

Fernandes Scortecci, Jessica; Molday, Laurie L.; Curtis, Susan B.; Garces, Fabian A.; Panwar, Pankaj; Van Petegem, Filip; Molday, Robert S.

Phospholipid-flippase chaperone CDC50A is required for synapse maintenance by regulating phosphatidylserine exposure 磷脂翻转酶伴侣CDC50A通过调节磷脂酰丝氨酸暴露来维持突触

EMBO JOURNAL

IF8.3

2021-09-29

OAAI

Li, Tao; Yu, Diankun; Oak, Hayeon C.; Zhu, Beika; Wang, Li; Jiang, Xueqiao; Molday, Robert S.; Kriegstein, Arnold; Piao, Xianhua

Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease

HUMAN MOLECULAR GENETICS

IF3.2

2021-04-28

OAAI

Lee, Winston; Zernant, Jana; Nagasaki, Takayuki; Molday, Laurie L.; Su, Pei-Yin; Fishman, Gerald A.; Tsang, Stephen H.; Molday, Robert S.; Allikmets, Rando

Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum ATP8A2关键结构域的新变异和临床谱的扩展

HUMAN MUTATION

IF3.7

2021-03-14

OAAI

Heidari, Erfan; Harrison, Alexander N.; Jafarinia, Ehsan; Tavasoli, Ali Reza; Almadani, Navid; Molday, Robert S.; Garshasbi, Masoud

TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate Transporter MCT1 Are Unique Components of the Photoreceptor Outer Segment Plasma Membrane

MOLECULAR & CELLULAR PROTEOMICS

IF5.5

2021-01-01

OAAI

Skiba, Nikolai P.; Cady, Martha A.; Molday, Laurie; Han, John Y. S.; Lewis, Tylor R.; Spencer, William J.; Thompson, Will J.; Hiles, Sarah; Philp, Nancy J.; Molday, Robert S.; Arshavsky, Vadim Y.

Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration 与Stargardt黄斑变性相关的纯合和亚型ABCA4变异体的功能分析和分类

HUMAN MUTATION

IF3.7

2020-09-09

OAAI

Curtis, Susan B.; Molday, Laurie L.; Garces, Fabian A.; Molday, Robert S.

研究方向