Publications:

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Functional characterization of ABCA4 genetic variants related to Stargardt disease.

Scientific Reports

Kim, Bo Min BM; Song, Hyo Sook HS; Kim, Jin-Young JY; Kwon, Eun Young EY; Ha, Seung Yeon SY; Kim, Minsuk M; Choi, Ji Ha JH

Publication Date: 2022-12-24

Variant appearance in text: ABCA4: Lys969Met

PubMed Link: 36566289

Variant Present in the following documents:

• Main text
• 41598_2022_Article_26912.pdf

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Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.

Human Mutation

Curtis, Susan B SB; Molday, Laurie L LL; Garces, Fabian A FA; Molday, Robert S RS

Publication Date: 2020-11

Variant appearance in text: ABCA4: Lys969Met

PubMed Link: 32845050

Variant Present in the following documents:

• Main text

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Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

The Journal Of Biological Chemistry

Quazi, Faraz F; Molday, Robert S RS

Publication Date: 2013-11-29

Variant appearance in text: ABCA4: K969M

PubMed Link: 24097981

Variant Present in the following documents:

• Main text

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DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice.

The Journal Of Clinical Investigation

Han, Zongchao Z; Conley, Shannon M SM; Makkia, Rasha S RS; Cooper, Mark J MJ; Naash, Muna I MI

Publication Date: 2012-09

Variant appearance in text: ABCA4: K969M

PubMed Link: 22886305

Variant Present in the following documents:

• Main text

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ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer.

Nature Communications

Quazi, Faraz F; Lenevich, Stepan S; Molday, Robert S RS

Publication Date: 2012-06-26

Variant appearance in text: ABCA4: K969M

PubMed Link: 22735453

Variant Present in the following documents:

• Main text
• ncomms1927-s1.pdf
• ncomms1927.pdf

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Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.

Progress In Lipid Research

Molday, Robert S RS; Zhang, Kang K

Publication Date: 2010-10

Variant appearance in text: ABCA4: K969M

PubMed Link: 20633576

Variant Present in the following documents:

• Main text

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The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Biochimica Et Biophysica Acta

Molday, Robert S RS; Zhong, Ming M; Quazi, Faraz F

Publication Date: 2009-07

Variant appearance in text: ABCA4: K969M

PubMed Link: 19230850

Variant Present in the following documents:

• Main text

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