Molday RS, Garces FA, Scortecci JF, Molday LL. Structure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration. Prog Retin Eye Res. 2022 Jul;89:101036. doi: 10.1016/j.preteyeres.2021.101036. Epub 2021 Dec 23. PMID: 34954332.
Li RC, Molday LL, Lin CC, Ren X, Fleischmann A, Molday RS, Yau KW. Low signaling efficiency from receptor to effector in olfactory transduction: A quantified ligand-triggered GPCR pathway. Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2121225119. doi: 10.1073/pnas.2121225119. Epub 2022 Aug 1. PMID: 35914143; PMCID: PMC9371729.
Tadini-Buoninsegni F, Mikkelsen SA, Mogensen LS, Holm R, Molday RS, Andersen JP. Electrogenic reaction step and phospholipid translocation pathway of the mammalian P4-ATPase ATP8A2. FEBS Lett. 2022 Jul 30. doi: 10.1002/1873-3468.14459. Epub ahead of print. PMID: 35945663.
Scortecci JF, Molday LL, Curtis SB, Garces FA, Panwar P, Van Petegem F, Molday RS. Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease. Nat Commun. 2021 12(1):5902. PMID: 34625547.
Li T, Yu D, Oak HC, Zhu B, Wang L, Jiang X, Molday RS, Kriegstein A, Piao X. Phospholipid-flippase chaperone CDC50A is required for synapse maintenance by regulating phosphatidylserine exposure. EMBO J. 2021 40(21):e107915. PMID: 34585770.
Skiba NP, Cady MA, Molday L, Han JYS, Lewis TR, Spencer WJ, Thompson WJ, Hiles S, Philp NJ, Molday RS, Arshavsky VY. TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate Transporter MCT1 Are Unique Components of the Photoreceptor Outer Segment Plasma Membrane. Mol Cell Proteomics. 2021 20:100088. PMID: 33933680.
Lee W, Zernant J, Nagasaki T, Molday LL, Su PY, Fishman GA, Tsang SH, Molday RS, Allikmets R. Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease. Hum Mol Genet. 2021: 30(14):1293-1304. doi: 10.1093/hmg/ddab122. PMID: 33909047.
Heidari E, Harrison AN, Jafarinia E, Tavasoli AR, Almadani N, Molday RS, Garshasbi M. Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum. Hum Mutat. 2021 42(5):491-497. PMID: 33565221.
Curtis SB, Molday LL, Garces FA, Molday RS. Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration. Hum Mutat. 2020 41:1944-1956. PMID: 32845050.
Ennishi D, Healy S, Bashashati A, Saberi S, Hother C, Mottok A, Chan FC, Chong L, Abraham L, Kridel R, Boyle M, Meissner B, Aoki T, Takata K, Woolcock BW, Viganò E, Gold M, Molday LL, Molday RS, Telenius A, Li MY, Wretham N, Dos Santos N, Wong M, Viller NN, Uger RA, Duns G, Baticados A, Madero A, Bristow BN, Farinha P, Slack GW, Ben-Neriah S, Lai D, Zhang AW, Salehi S, Shulha HP, Chiu DS, Mostafavi S, Gerrie AS, Huang DW, Rushton C, Villa D, Sehn LH, Savage KJ, Mungall AJ, Weng AP, Bally MB, Morin RD, Cohen Freue GV, Staudt LM, Connors JM, Marra MA, Shah SP, Gascoyne RD, Scott DW, Steidl C. TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma. Nat Med. 2020 26(4):577-588. PMID: 32094924.
Dyka FM, Molday LL, Chiodo VA, Molday RS, Hauswirth WW. Dual ABCA4-AAV Vector Treatment Reduces Pathogenic Retinal A2E Accumulation in a Mouse Model of Autosomal Recessive Stargardt Disease. Hum Gene Ther. 2019 30:1361-1370. PMID: 31418294
Choi H, Andersen JP, Molday RS. Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders. Hum Mutat. 2019 40:2353-2364 PMID: 31397519.
Tadini-Buoninsegni F, Mikkelsen SA, Mogensen LS, Molday RS, Andersen JP. Phosphatidylserine flipping by the P4-ATPase ATP8A2 is electrogenic. Proc Natl Acad Sci U S A. 2019 13;116(33):16332-16337. PMID: 31371510.
Liou AY, Molday LL, Wang J, Andersen JP, Molday RS. Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells. J Biol Chem. 2019 294(17):6809-6821. PMID: 30850395.
Molday LL, Cheng CL, Molday RS. Cell-Specific Markers for the Identification of Retinal Cells and Subcellular Organelles by Immunofluorescence Microscopy. Methods Mol Biol. 2019;1834:293-310. PMID: 30324451.
Wang J, Molday LL, Hii T, Coleman JA, Wen T, Andersen JP, Molday RS. Proteomic Analysis and Functional Characterization of P4-ATPase Phospholipid Flippases from Murine Tissues. Sci Rep. 2018 17;8(1):10795. PMID: 30018401.
Garces F, Jiang K, Molday LL, Stöhr H, Weber BH, Lyons CJ, Maberley D, Molday RS. Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease. Invest Ophthalmol Vis Sci. 2018 59:2305-2315. PMID: 29847635.
Molday LL, Wahl D, Sarunic MV, Molday RS. Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration. Hum Mol Genet. 2018 27:295-306. PMID: 29145636.
Andersen JP, Vestergaard AL, Mikkelsen SA, Mogensen LS, Chalat M, Molday RS. P4-ATPases as Phospholipid Flippases-Structure, Function, and Enigmas. Front Physiol. 2016 8;7:275. PMID: 27458383.
Molday RS, Moritz OL. Photoreceptors at a glance. J Cell Sci. 2015 15;128:4039-45. PMID: 26574505.
Molday RS. Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease. Prog Mol Biol Transl Sci. 2015;134:415-31. PMID: 26310168.
Lee S, Uchida Y, Wang J, Matsudaira T, Nakagawa T, Kishimoto T, Mukai K, Inaba T, Kobayashi T, Molday RS, Taguchi T, Arai H. Transport through recycling endosomes requires EHD1 recruitment by a phosphatidylserine translocase. EMBO J. 2015 Mar 4;34:669-88. PMID: 25595798.
Molday LL, Molday RS. 1D4: a versatile epitope tag for the purification and characterization of expressed membrane and soluble proteins. Methods Mol Biol. 2014;1177:1-15. PMID: 24943310.
Quazi F, Molday RS. ATP-binding cassette transporter ABCA4 and chemical isomerization protect photoreceptor cells from the toxic accumulation of excess 11-cis-retinal. Proc Natl Acad Sci U S A. 2014 11113):5024-9. doi: 10.1073/pnas.1400780111. Epub 2014 Mar 20. PMID: 24707049.
Vestergaard AL, Coleman JA, Lemmin T, Mikkelsen SA, Molday LL, Vilsen B, Molday RS, Dal Peraro M, Andersen JP. Critical roles of isoleucine-364 and adjacent residues in a hydrophobic gate control of phospholipid transport by the mammalian P4-ATPase ATP8A2. Proc Natl Acad Sci U S A. 2014 111:E1334-43. PMID: 24706822.
Coleman JA, Zhu X, Djajadi HR, Molday LL, Smith RS, Libby RT, John SW, Molday RS. Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival. J Cell Sci. 2014 1138-49. PMID: 24413176.
Quazi F, Molday RS. Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. J Biol Chem. 2013. 288:34414-26. PMID: 24097981.
Molday LL, Djajadi H, Yan P, Szczygiel L, Boye SL, Chiodo VA, Gregory-Evans K, Sarunic MV, Hauswirth WW, Molday RS. RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. Hum Mol Genet. 2013 22:3894-905. PMID: 23740938.
Quazi F, Lenevich S, Molday RS. ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer. Nat Commun. 2012 3:925. PMID: 22735453.
Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res. 2012 31:195-212. PMID: 22245536.
Coleman JA, Molday RS. Critical role of the beta-subunit CDC50A in the stable expression, assembly, subcellular localization, and lipid transport activity of the P4-ATPase ATP8A2. J Biol Chem. 2011 286:17205-16. PMID: 21454556.
Azadi S, Molday LL, Molday RS. RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Proc Natl Acad Sci U S A. 2010 107:21158-63. PMID: 21078983.
Coleman JA, Kwok MC, Molday RS. Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. J Biol Chem. 2009 284:32670-9. PMID: 19778899.
Janssen A, Min SH, Molday LL, Tanimoto N, Seeliger MW, Hauswirth WW, Molday RS, Weber BH. Effect of late-stage therapy on disease progression in AAV-mediated rescue of photoreceptor cells in the retinoschisin-deficient mouse. Mol Ther. 2008 16:1010-7. PMID: 18388913.
Kwok MC, Holopainen JM, Molday LL, Foster LJ, Molday RS. Proteomics of photoreceptor outer segments identifies a subset of SNARE and Rab proteins implicated in membrane vesicle trafficking and fusion. Mol Cell Proteomics. 2008 7:1053-66. PMID: 18245078.
Beharry S, Zhong M, Molday RS. N-retinylidene-phosphatidylethanolamine is the preferred retinoid substrate for the photoreceptor-specific ABC transporter ABCA4 (ABCR). J Biol Chem. 2004 279:53972-9. PMID: 15471866.
Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem. 2003 278:28139-46. PMID: 12746437.
Zhong H, Molday LL, Molday RS, Yau KW. The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry. Nature. 2002 420:193-8. PMID: 12432397.
Weber BH, Schrewe H, Molday LL, Gehrig A, White KL, Seeliger MW, Jaissle GB, Friedburg C, Tamm E, Molday RS. Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci U S A. 2002 99:6222-7.PMID: 11983912.
Poetsch A, Molday LL, Molday RS. The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes. J Biol Chem. 2001 276:48009-16. PMID: 11641407.
Bungert S, Molday LL, Molday RS. Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. J Biol Chem. 2001 276:23539-46. PMID: 11320094.
Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet. 2000 25:257-8. PMID: 10888868.
Ahn J, Wong JT, Molday RS. The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy. J Biol Chem. 2000 275:20399-405. PMID: 10767284.
Goldberg AF, Loewen CJ, Molday RS. Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. Biochemistry. 1998 37:680-5. PMID: 9425091.
Illing M, Molday LL, Molday RS. The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem. 1997 272:10303-10. PMID: 9092582.
Hsu YT, Molday RS. Modulation of the cGMP-gated channel of rod photoreceptor cells by calmodulin. Nature. 1993 361:76-9. PMID: 7678445.
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