Researcher profile · Semantic Scholar

A. Eblimit

h-index: 17
Works: 33
Citations: 889

Most-cited papers

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Gavin Arno, S. Agrawal, A. Eblimit, J. Bellingham +47 more
2016American Journal of Human Genetics116 citations Open access
Semantic Scholar
Kaliziri extract upregulates tyrosinase, TRP-1, TRP-2 and MITF expression in murine B16 melanoma cells
Adila Tuerxuntayi, Yong-Qiang Liu, Ablajan Tulake, M. Kabas +2 more
2014BMC Complementary and Alternative Medicine87 citations Open access
Semantic Scholar
A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, Peng-Cheng Zhang +12 more
2019bioRxiv81 citations Open access
Semantic Scholar
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
Mingchu Xu, Y. Xie, H. Abouzeid, C. Gordon +63 more
2017American Journal of Human Genetics75 citations Open access
Semantic Scholar
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
A. Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, J. Esteve-Rudd +18 more
2015Human Molecular Genetics65 citations Open access
Semantic Scholar
ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.
Mingchu Xu, Violet Gelowani, A. Eblimit, Feng Wang +11 more
2015Investigative Ophthalmology and Visual Science57 citations Open access
Semantic Scholar
ADIPOR1 is mutated in syndromic retinitis pigmentosa
Mingchu Xu, A. Eblimit, Jing Wang, Jianli Li +8 more
2016Human Mutation56 citations Open access
Semantic Scholar
Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
Mingchu Xu, Takeyuki Yamada, Zi-Xi Sun, A. Eblimit +12 more
2016Human Molecular Genetics50 citations Open access
Semantic Scholar
SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium
Rachayata Dharmat, A. Eblimit, Michael A. Robichaux, Zhi-Xian Zhang +11 more
2018Journal of Cell Biology46 citations Open access
Semantic Scholar
REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking
S. Agrawal, T. Burgoyne, A. Eblimit, J. Bellingham +12 more
2017Human Molecular Genetics44 citations Open access
Semantic Scholar
Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1
Zachry T. Soens, Yuan-Yuan Li, Li Zhao, A. Eblimit +9 more
2015Genetics in Medicine27 citations Open access
Semantic Scholar
Isochlorogenic acid A promotes melanin synthesis in B16 cell through the &bgr;-catenin signal pathway
Nuramina Mamat, J. Dou, Xue-Ying Lu, A. Eblimit +1 more
2017Acta Biochimica et Biophysica Sinica26 citations Open access
Semantic Scholar
NMNAT1 E257K Variant, Associated with Leber Congenital Amaurosis (LCA9), Causes a Mild Retinal Degeneration Phenotype
A. Eblimit, S. Zaneveld, Wei Liu, K. Thomas +4 more
2018Experimental Eye Research23 citations
Semantic Scholar
POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult Brain
Cynthia K. McClard, M. Kochukov, Isabella Herman, Zhan-Dong Liu +8 more
2018Journal of Neuroscience23 citations Open access
Semantic Scholar
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa
Hua Zhong, A. Eblimit, Y. Moayedi, Sanford L. Boye +7 more
2015Gene Therapy22 citations Open access
Semantic Scholar
Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes
Li Zhao, Yiyun Chen, Amol O. Bajaj, A. Eblimit +10 more
2016Genome Research21 citations Open access
Semantic Scholar
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity
A. Tajiguli, Mingchu Xu, Q. Fu, Rouzimaimaiti Yiming +6 more
2016Scientific Reports20 citations Open access
Semantic Scholar
Conditional Loss of Spata7 in Photoreceptors Causes Progressive Retinal Degeneration in Mice
A. Eblimit, S. Agrawal, K. Thomas, Anastassov Ivan Assenov +3 more
2017Experimental Eye Research13 citations Open access
Semantic Scholar
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice
S. Zaneveld, A. Eblimit, Q. Liang, R. Bertrand +7 more
2019Human Gene Therapy12 citations Open access
Semantic Scholar
Spata 7 is a retinal ciliopathy gene critical for correct RPGRIP 1 localization and protein traf fi cking in the retina
A. Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, J. Esteve-Rudd +18 more
201510 citations
Semantic Scholar
Conditional knockout of retinal determination genes in differentiating cells in Drosophila
Meng Jin, A. Eblimit, M. Pulikkathara, S. Corr +2 more
2016The FEBS Journal8 citations Open access
Semantic Scholar
Co-Injection of Sulfotyrosine Facilitates Retinal Uptake of Hyaluronic Acid Nanospheres Following Intravitreal Injection
A. Eblimit, Mustafa S. Makia, Daniel Strayve, Ryan A. Crane +5 more
2021Pharmaceutics7 citations Open access
Semantic Scholar
2719-LB: Oral NLRP3 Inhibitor BGE-102 Preserves Retinal Vascular Integrity in a Preclinical Model of Diabetic Retinopathy
A. Eblimit, Dean Punzalan, Shijun Yan, Andrew Banicki +14 more
2026Diabetes0 citations
Semantic Scholar
Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer
Lakshya Bajaj, Jaiprakash Sharma, Alberto di Ronza, Pengcheng Zhang +12 more
2025Journal of Clinical Investigation0 citations
Semantic Scholar
Acknowledgment to the Reviewers of JPM in 2022
AG Mdpi, St. Alban-Anlage, Basel, Switzerland +496 more
2023Journal of Personalized Medicine0 citations Open access
Semantic Scholar
Corrigendum to "Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice" [Exp. Eye Res. 166 (2018) 120-130].
A. Eblimit, S. Agrawal, K. Thomas, I. Anastassov +4 more
2018Experimental Eye Research0 citations
Semantic Scholar
Single cell RNA-Seq to elucidate the mechanism of delayed cell death in retinal dystrophy.
Rachayata Dharmat, Sangbae Kim, Yumei Li, A. Eblimit +1 more
20180 citations
Semantic Scholar
Photoreceptor-specific transition zone (PSTZ), a novel sub-region of the connecting cilium (CC), is maintained by retinal ciliopathy protein SPATA7.
Rachayata Dharmat, A. Eblimit, Yumei Li, Michael A. Robichaux +7 more
20170 citations
Semantic Scholar
Presentation Time : 8 : 45 AM – 9 : 00 AM Contribution of autophagy to Usher syndrome pathogenesis
Rachayata Dharmat, A. Eblimit, Yumei Li, Michael A. Robichaux +21 more
20170 citations
Semantic Scholar
Mutations in Receptor Expression Enhancing Protein 6 (REEP6) Cause Early Onset RP in Humans.
S. Agrawal, A. Eblimit, Feng Wang, Mingchu Xu +3 more
20160 citations
Semantic Scholar
Genetics ATF 6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement
Mingchu Xu, Violet Gelowani, A. Eblimit, Feng Wang +11 more
20150 citations
Semantic Scholar
Retinal Ciliopathy gene SPATA7, plays a critical role in maintaining the integrity of Transition zone complex in photoreceptors
Rachayata Dharmat, Yiyun Chen, Li Zhao, A. Eblimit +6 more
20150 citations
Semantic Scholar
The Mouse Homolog of the Human LCA3 Gene, Spata7, Plays a Critical Role in Cilium Structural Maintenance and Protein Trafficking in Photoreceptor Cells
Rui Chen, A. Eblimit, Yiyun Chen, Minh Nguyen +6 more
20140 citations
Semantic Scholar

Li Zhao

×8

Keqing Wang×8

Feng Wang×7

Rachayata Dharmat×7

S. Agrawal×6

S. Jung×6

Yiyun Chen×6

Feng He×5