A missense mutation inASRGL1is involved in causing autosomal recessive retinal degeneration

Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement

(2015) Mohammed E. El-Asrag et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations

(2015) Ning Zhang et al.   HUMAN MOLECULAR GENETICS

Advancing Therapeutic Strategies for Inherited Retinal Degeneration: Recommendations From the Monaciano Symposium

(2015) D. A. Thompson et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis

(2015) Songhua Li et al.   JOURNAL OF BIOCHEMISTRY

Accelerated protein damage in brains of PIMT+/− mice; a possible model for the variability of cognitive decline in human aging

(2015) Zhenxia Qin et al.   NEUROBIOLOGY OF AGING

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

(2015) Bruno Maranhao et al.   PLoS One

Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

(2015) Maleeha Maria et al.   PLoS One

Endoplasmic reticulum stress and the unfolded protein responses in retinal degeneration

(2014) Sarah X. Zhang et al.   EXPERIMENTAL EYE RESEARCH

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

(2014) B. Maranhao et al.   GENOMICS

Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives

(2014) Anthony H V Schapira et al.   LANCET

Enzymatic Polymerization of Cyclic Monomers in Ionic Liquids as a Prospective Synthesis Method for Polyesters Used in Drug Delivery Systems

(2014) Urszula Piotrowska et al.   MOLECULES

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

(2014) J.-A. Sahel et al.   Cold Spring Harbor Perspectives in Medicine

Molecular Ageing of Alpha- and Beta-Synucleins: Protein Damage and Repair Mechanisms

(2013) Vasanthy Vigneswara et al.   PLoS One

Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration

(2013) E. S. Lobanova et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Uncoupling Intramolecular Processing and Substrate Hydrolysis in the N-Terminal Nucleophile Hydrolase hASRGL1 by Circular Permutation

(2012) Wenzong Li et al.   ACS Chemical Biology

Identification of a Novel Mutation in the CDHR1 Gene in a Family With Recessive Retinal Degeneration

(2012) Jacque L. Duncan et al.   ARCHIVES OF OPHTHALMOLOGY

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

(2011) Venkata R.M. Chavali et al.   HUMAN MOLECULAR GENETICS

Phenotype and Genotype of Patients with Autosomal Recessive Bestrophinopathy

(2011) Ian M. MacDonald et al.   OPHTHALMIC GENETICS

Protein Misfolding and Retinal Degeneration

(2011) R. Tzekov et al.   Cold Spring Harbor Perspectives in Biology

A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa

(2010) Lin Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype-Phenotype Correlation for Leber Congenital Amaurosis in Northern Pakistan

(2010) Martin McKibbin   ARCHIVES OF OPHTHALMOLOGY

The Human Asparaginase-like Protein 1 hASRGL1 Is an Ntn Hydrolase with β-Aspartyl Peptidase Activity

(2009) Jason R. Cantor et al.   BIOCHEMISTRY

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

(2008) Rosemary Burgess et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isoaspartate residues dramatically influence substrate recognition and turnover by proteases

(2008) Livia Böhme et al.   BIOLOGICAL CHEMISTRY