Works matching AU Weh, Eric

Results: 11

Glutamine catabolism supports amino acid biosynthesis and suppresses the integrated stress response to promote photoreceptor survival.

Published in:

eLife, 2025, p. 1, doi. 10.7554/eLife.100747

By:

Goswami, Moloy T.;
Weh, Eric;
Subramanya, Shubha;
Weh, Katherine M.;
Durumutla, Hima Bindu;
Hager, Heather;
Miller, Nicholas;
Chaudhury, Sraboni;
Andren, Anthony;
Sajjakulnukit, Peter;
Li Zhang;
Besirli, Cagri;
Lyssiotis, Costas A.;
Wubben, Thomas J.

Publication type:

Article

Hexokinase 2 is dispensable for photoreceptor development but is required for survival during aging and outer retinal stress.

Published in:

Cell Death & Disease, 2020, v. 11, n. 6, p. 1, doi. 10.1038/s41419-020-2638-2

By:

Weh, Eric;
Lutrzykowska, Zuzanna;
Smith, Andrew;
Hager, Heather;
Pawar, Mercy;
Wubben, Thomas J.;
Besirli, Cagri G.

Publication type:

Article

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3630, doi. 10.1093/hmg/ddx251

By:

Protas, Meredith E.;
Weh, Eric;
Footz, Tim;
Kasberger, Jay;
Baraban, Scott C.;
Levin, Alex V.;
Katz, L. Jay;
Ritch, Robert;
Walter, Michael A.;
Semina, Elena V.;
Gould, Douglas B.

Publication type:

Article

8q21.11 microdeletion in two patients with syndromic peters anomaly.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2471, doi. 10.1002/ajmg.a.37840

By:

Happ, Hannah;
Schilter, Kala F.;
Weh, Eric;
Reis, Linda M.;
Semina, Elena V.

Publication type:

Article

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Published in:

Molecular Vision, 2016, v. 22, p. 1

By:

Reis, Linda M.;
Tyler, Rebecca C.;
Weh, Eric;
Hendee, Kathryn E.;
Kariminejad, Ariana;
AbdulRahman, Omar;
BenOmran, Tawfeg;
Manning, Melanie A.;
Yesilyurt, Ahmet;
McCarty, Catherine A.;
Kitchner, Terrie E.;
Costakos, Deborah;
Semina, Elena V.

Publication type:

Article

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Published in:

PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184903

By:

Weh, Eric;
Takeuchi, Hideyuki;
Muheisen, Sanaa;
Haltiwanger, Robert S.;
Semina, Elena V.

Publication type:

Article

Rod photoreceptor-specific deletion of cytosolic aspartate aminotransferase, GOT1, causes retinal degeneration.

Published in:

Frontiers in Ophthalmology, 2023, p. 1, doi. 10.3389/fopht.2023.1306019

By:

Subramanya, Shubha;
Goswami, Moloy T.;
Miller, Nicholas;
Weh, Eric;
Chaudhury, Sraboni;
Li Zhang;
Andren, Anthony;
Hager, Heather;
Weh, Katherine M.;
Lyssiotis, Costas A.;
Besirli, Cagri G.;
Wubben, Thomas J.

Publication type:

Article

Development of Novel Small-Molecule Activators of Pyruvate Kinase Muscle Isozyme 2, PKM2, to Reduce Photoreceptor Apoptosis.

Published in:

Pharmaceuticals (14248247), 2023, v. 16, n. 5, p. 705, doi. 10.3390/ph16050705

By:

Wubben, Thomas J.;
Chaudhury, Sraboni;
Watch, Brennan T.;
Stuckey, Jeanne A.;
Weh, Eric;
Fernando, Roshini;
Goswami, Moloy;
Pawar, Mercy;
Rech, Jason C.;
Besirli, Cagri G.

Publication type:

Article

Metabolic Alterations Caused by Simultaneous Loss of HK2 and PKM2 Leads to Photoreceptor Dysfunction and Degeneration.

Published in:

Cells (2073-4409), 2023, v. 12, n. 16, p. 2043, doi. 10.3390/cells12162043

By:

Weh, Eric;
Goswami, Moloy;
Chaudhury, Sraboni;
Fernando, Roshini;
Miller, Nick;
Hager, Heather;
Sheskey, Sarah;
Sharma, Vikram;
Wubben, Thomas J.;
Besirli, Cagri G.

Publication type:

Article

Whole exome sequence analysis of Peters anomaly.

Published in:

Human Genetics, 2014, v. 133, n. 12, p. 1497, doi. 10.1007/s00439-014-1481-x

By:

Weh, Eric;
Reis, Linda;
Happ, Hannah;
Levin, Alex;
Wheeler, Patricia;
David, Karen;
Carney, Erin;
Angle, Brad;
Hauser, Natalie;
Semina, Elena

Publication type:

Article

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.

Published in:

2016

By:

Happ, Hannah;
Weh, Eric;
Reis, Linda M.;
Semina, Elena V.;
Costakos, Deborah

Publication type:

Case Study