ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Shazia Ashraf, Heon Yung Gee, Stéphanie Woerner, +42

Journal of Clinical Investigation

GeneticsRenal PathologyImmunologyMolecular GeneticsTranslational Biology +15

A Comparison of Some Organizational Characteristics of the Mouse Central Retina and the Human Macula

Stefanie Volland, Julián Esteve-Rudd, Juyea Hoo, +2

PLoS ONE

Organizational CharacteristicsRetinal DegenerationsOptogeneticsOptic NerveCellular Physiology +20

ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6

Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, +55

The American Journal of Human Genetics

PathologyNeuropathologyMedicineCell BiologyZmynd10 Is Mutated +2

Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome

Heon Yung Gee, Shazia Ashraf, Xiaoyang Wan, +17

The American Journal of Human Genetics

Genetic DisorderGeneticsPathologyMedicineClinical Genetics

Essential Role of ELOVL4 Protein in Very Long Chain Fatty Acid Synthesis and Retinal Function

Richard Harkewicz, Hongjun Du, Zongzhong Tong, +14

Journal of Biological Chemistry

Alpha synuclein gene expression profile in the retina of vertebrates.

Gema Martı́nez, José Martín‐Nieto, Julián Esteve-Rudd, +2

PubMed

Microtubule motors transport phagosomes in the RPE, and lack of KLC1 leads to AMD-like pathogenesis

Mei Jiang, Julián Esteve-Rudd, Vanda S. Lopes, +4

The Journal of Cell Biology

Amd-like PathogenesisImmunologyMolecular BiologyCytoskeletonMicrotubule Motors +16

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, +19

Human Molecular Genetics

Protein FunctionSignal TransductionDevelopmental BiologyOphthalmologyRetina +13

Rotenone induces degeneration of photoreceptors and impairs the dopaminergic system in the rat retina

Julián Esteve-Rudd, Laura Fernández‐Sánchez, Pedro Lax, +3

Neurobiology of Disease

Photoreceptor CellMolecular NeuroscienceRetinaOphthalmologyExperimental Ophthalmology +7

Expression in the mammalian retina of parkin and UCH-L1, two components of the ubiquitin-proteasome system

Julián Esteve-Rudd, Laura Campello, María Trinidad Herrero, +2

Brain Research

Protein FunctionSignal TransductionRetinaPhotoreceptor CellMedicine +7