Laurie L. Molday - Publications, H-index & Citations

Laurie L. Molday

Radboud University Nijmegen

42H指数

100论文数

6.3K被引数

收录论文 40

发表时间

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 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.

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2024-08-01

OAAI

Aslaksen, Sigrid; Aukrust, Ingvild; Molday, Laurie; Holtan, Josephine Prener; Jansson, Ragnhild Wivestad; Berland, Siren; Bredrup, Cecilie; Bragadottir, Ragnheidour; Bratland, Eirik; Molday, Robert S.; Knappskog, Per Morten

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.

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.

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

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.

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

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.

TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma

NATURE MEDICINE

IF50

2020-02-24

OAAI

Ennishi, Daisuke; Healy, Shannon; Bashashati, Ali; Saberi, Saeed; Hother, Christoffer; Mottok, Anja; Chan, Fong Chun; Chong, Lauren; Abraham, Libin; Kridel, Robert; Boyle, Merrill; Meissner, Barbara; Aoki, Tomohiro; Takata, Katsuyoshi; Woolcock, Bruce W.; Vigano, Elena; Gold, Michael; Molday, Laurie L.; Molday, Robert S.; Telenius, Adele; Li, Michael Y.; Wretham, Nicole; Dos Santos, Nancy; Wong, Mark; Viller, Natasja N.; Uger, Robert A.; Duns, Gerben; Baticados, Abigail; Madero, Angel; Bristow, Brianna N.; Farinha, Pedro; Slack, Graham W.; Ben-Neriah, Susana; Lai, Daniel; Zhang, Allen W.; Salehi, Sohrab; Shulha, Hennady P.; Chiu, Derek S.; Mostafavi, Sara; Gerrie, Alina S.; Huang, Da Wei; Rushton, Christopher; Villa, Diego; Sehn, Laurie H.; Savage, Kerry J.; Mungall, Andrew J.; Weng, Andrew P.; Bally, Marcel B.; Morin, Ryan D.; Cohen Freue, Gabriela V.; Staudt, Louis M.; Connors, Joseph M.; Marra, Marco A.; Shah, Sohrab P.; Gascoyne, Randy D.; Scott, David W.; Steidl, Christian

Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2019-04-01

OAAI

Liou, Angela Y.; Molday, Laurie L.; Wang, Jiao; Andersen, Jens Peter; Molday, Robert S.

Proteomic Analysis and Functional Characterization of P4-ATPase Phospholipid Flippases from Murine Tissues

SCIENTIFIC REPORTS

IF3.9

2018-07-17

OAAI

Wang, Jiao; Molday, Laurie L.; Hii, Theresa; Coleman, Jonathan A.; Wen, Tieqiao; Andersen, Jens P.; Molday, Robert S.

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-05-31

OAAI

McMillan, Hugh J.; Telegrafi, Aida; Singleton, Amanda; Cho, Megan T.; Lelli, Daniel; Lynn, Francis C.; Griffin, Julie; Asamoah, Alexander; Rinne, Tuula; Erasmus, Corrie E.; Koolen, David A.; Haaxma, Charlotte A.; Keren, Boris; Doummar, Diane; Mignot, Cyril; Thompson, Islay; Velsher, Lea; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Maroofian, Reza; Tchan, Michel; Simons, Cas; Christodoulou, John; Martin-Hernandez, Elena; Sacoto, Maria J. Guillen; Henderson, Lindsay B.; McLaughlin, Heather; Molday, Laurie L.; Molday, Robert S.; Yoon, Grace

Ca2+-activated Cl current predominates in threshold response of mouse olfactory receptor neurons Ca2激活的Cl电流在小鼠嗅觉受体神经元的阈值反应中占主导地位

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

IF9.1

2018-05-07

OAAI

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

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

IF4.7

2018-05-07

OAAI

Garces, Fabian; Jiang, Kailun; Molday, Laurie L.; Stoehr, Heidi; Weber, Bernhard H.; Lyons, Christopher J.; Maberley, David; Molday, Robert S.

Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration

HUMAN MOLECULAR GENETICS

IF3.2

2017-11-14

OAAI

Molday, Laurie L.; Wahl, Daniel; Sarunic, Marinko V.; Molday, Robert S.

Deep Informatics Utilized to Design MiniPromoters for Driving PAX6-Like Retinal Expression with AAV

MOLECULAR THERAPY

IF12

2015-05-01

OAAI

Hickmott, Jack W.; Chen, Chih-yu; Arenillas, David J.; Li, Yifeng; Molday, Laurie L.; Korecki, Andrea J.; Lam, Siu Ling; Lam, Ling; Bonaguro, Russell J.; Zhou, Michelle; Chan, Alice Y.; Boye, Sanford L.; Hauswirth, William W.; Molday, Robert S.; Wasserman, Wyeth W.; Simpson, Elizabeth M.

Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2

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

IF9.1

2014-03-24

OAAI

Vestergaard, Anna L.; Coleman, Jonathan A.; Lemmin, Thomas; Mikkelsen, Stine A.; Molday, Laurie L.; Vilsen, Bente; Molday, Robert S.; Dal Peraro, Matteo; Andersen, Jens Peter

研究方向