ZFIN

ZFIN ID: ZDB-GENE-030318-2

ZFIN ID: ZDB-GENE-030318-2

CITATIONS (44 total)

Gene Name:	CHM Rab escort protein
Gene Symbol:	chm

Sarkar, H., Lahne, M., Nair, N., Moosajee, M. (2023) Oxidative and Endoplasmic Reticulum Stress Represent Novel Therapeutic Targets for Choroideremia. Antioxidants (Basel, Switzerland). 12(9):

Toualbi, L., Toms, M., Almeida, P.V., Harbottle, R., Moosajee, M. (2023) Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia. International Journal of Molecular Sciences. 24(20):

Lima Cunha, D., Richardson, R., Tracey-White, D., Abbouda, A., Mitsios, A., Horneffer-van der Sluis, V., Takis, P., Owen, N., Skinner, J., Welch, A.A., Moosajee, M. (2021) REP1-deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. JCI insight. 6(9):

Song, K.H., Woo, S.R., Chung, J.Y., Lee, H.J., Oh, S.J., Hong, S.O., Shim, J., Kim, Y.N., Rho, S.B., Hong, S.M., Cho, H., Hibi, M., Bae, D.J., Kim, S.Y., Kim, M.G., Kim, T.W., Bae, Y.K. (2017) REP1 inhibits FOXO3-mediated apoptosis to promote cancer cell survival. Cell Death & Disease. 8:e2536

Yun, U.J., Sung, J.Y., Park, S.Y., Ye, S.K., Shim, J., Lee, J.S., Hibi, M., Bae, Y.K., Kim, Y.N. (2017) Oncogenic role of rab escort protein 1 through EGFR and STAT3 pathway. Cell Death & Disease. 8:e2621

Moosajee, M., Tracey-White, D., Smart, M., Weetall, M., Torriano, S., Kalatzis, V., da Cruz, L., Coffey, P., Webster, A.R., Welch, E. (2016) Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model. Human molecular genetics. 25(16):3416-3431

Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549

Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735

Bae, Y.K., Kani, S., Shimizu, T., Tanabe, K., Nojima, H., Kimura, Y., Higashijima, S.I., and Hibi, M. (2009) Anatomy of zebrafish cerebellum and screen for mutations affecting its development. Developmental Biology. 330(2):406-426

Birkholz, D.A., Killian, E.C., George, K.M., and Artinger, K.B. (2009) Prdm1a is necessary for posterior pharyngeal arch development in zebrafish. Developmental Dynamics : an official publication of the American Association of Anatomists. 238(10):2575-2587

Moosajee, M., Tulloch, M., Baron, R.A., Gregory-Evans, C.Y., Pereira-Leal, J.B., and Seabra, M.C. (2009) Single choroideremia gene in non-mammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia. Investigative ophthalmology & visual science. 50(6):3009-3016

Moosajee, M., Gregory-Evans, K., Ellis, C.D., Seabra, M.C., and Gregory-Evans, C.Y. (2008) Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease. Human molecular genetics. 17(24):3987-4000

Krock, B.L., Bilotta, J., and Perkins, B.D. (2007) Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia. Proceedings of the National Academy of Sciences of the United States of America. 104(11):4600-4605

Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433

Nicolson, T. (2005) The genetics of hearing and balance in zebrafish. Annual review of genetics. 39:9-22

Starr, C.J., Kappler, J.A., Chan, D.K., Kollmar, R., and Hudspeth, A.J. (2004) Mutation of the zebrafish choroideremia gene encoding Rab escort protein 1 devastates hair cells. Proceedings of the National Academy of Sciences of the United States of America. 101(8):2572-2577

Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903

Haffter, P., Granato, M., Brand, M., Mullins, M.C., Hammerschmidt, M., Kane, D.A., Odenthal, J., van Eeden, F.J., Jiang, Y.J., Heisenberg, C.P., Kelsh, R.N., Furutani-Seiki, M., Vogelsang, E., Beuchle, D., Schach, U., Fabian, C., and Nüsslein-Volhard, C. (1996) The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development (Cambridge, England). 123:1-36

Additional Citations (26):

ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.

ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.

ZFIN Staff (2019) Analysis of data directly submitted to the Zebrafish International Resource Center (ZIRC). ZFIN Direct Data Submission.

ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.

ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.

UniProt curators (2015) Electronic Gene Ontology annotations created by transferring manual GO annotations between related proteins based on shared sequence features.. Automated Data Submission.

ZFIN Staff (2015) Data Model Change: Sequence Targeting Reagents Removed from Environment. ZFIN Historical Data.

Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.

ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.

ZIRC and ZFIN staff (2013) Mutant and Transgenic Line Submissions 2013. ZFIN Direct Data Submission.

Burgess, S., and Lin, S. (2012) Viral Insertion Mutants Overwrite Data. ZFIN Direct Data Submission.

UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.

Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.

ZFIN Staff (2007) Microarray Expression to Gene Association in ZFIN. Semi-automated Curation.

Phenotype Annotation (1994-2006) (2006) Mutant Data Curated from Older Literature. ZFIN Historical Data.

Zebrafish Nomenclature Committee (2006) Mutant / transgenic name reservations. Nomenclature Committee Submission.

ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.

Thisse, B., Thisse, C. (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission.

ZFIN Staff (2004) ZGC Data Curation and Association in ZFIN by ZFIN Staff. Semi-automated Curation.

Zebrafish Nomenclature Committee (2003) Nomenclature Data Curation (2003-2010). Nomenclature Committee Submission.

ZFIN Staff (2003) Submission and Curation of Mutant and Transgenic Lines. ZFIN Direct Data Submission.

ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.

ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.

ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.

ZFIN Staff (2002) Scientific Curation. Manually curated data.

ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.