Related references
Note: Only part of the references are listed.NMR resonance assignments of the TPR domain of human aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1)
Liping Yu et al.
BIOMOLECULAR NMR ASSIGNMENTS (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
Jana Zernant et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
Peter D. Stenson et al.
HUMAN GENETICS (2017)
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6
Almudena Sacristan-Reviriego et al.
HUMAN MOLECULAR GENETICS (2017)
Unique structural features of the AIPL1-FKBP domain that support prenyl lipid binding and underlie protein malfunction in blindness
Ravi P. Yadav et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2017)
Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa
Freya M. Mowat et al.
FRONTIERS IN NEUROSCIENCE (2017)
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
Susanne Roosing et al.
GENES (2017)
A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic Allele?
Cindy S. Kaway et al.
CASE REPORTS IN OPHTHALMOLOGY (2017)
NMR resonance assignments of the FKBP domain of human aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) in complex with a farnesyl ligand
Liping Yu et al.
BIOMOLECULAR NMR ASSIGNMENTS (2017)
Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations
Sarah Hull et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2016)
Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client
Kota N. Gopalakrishna et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype
Vithiyanjali Sothilingam et al.
HUMAN MOLECULAR GENETICS (2015)
Extended conformation of the proline-rich domain of human aryl hydrocarbon receptor-interacting protein-like 1: implications for retina disease
Ravi P. Yadav et al.
JOURNAL OF NEUROCHEMISTRY (2015)
The Phyre2 web portal for protein modeling, prediction and analysis
Lawrence A. Kelley et al.
NATURE PROTOCOLS (2015)
Preserved Outer Retina in AIPL1 Leber's Congenital Amaurosis: Implications for Gene Therapy
Jonathan Aboshiha et al.
OPHTHALMOLOGY (2015)
Viral-mediated vision rescue of a novel AIPL1 cone-rod dystrophy model
Cristy A. Ku et al.
HUMAN MOLECULAR GENETICS (2015)
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis
James Bellingham et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Unique Proline-Rich Domain Regulates the Chaperone Function of AIPL1
Jing Li et al.
BIOCHEMISTRY (2013)
The FKBP-Type Domain of the Human Aryl Hydrocarbon Receptor-Interacting Protein Reveals an Unusual Hsp90 Interaction
Miriam Linnert et al.
BIOCHEMISTRY (2013)
Interaction of Aryl Hydrocarbon Receptor-interacting Protein-like 1 with the Farnesyl Moiety
Anurima Majumder et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
Mei Hong Tan et al.
PLOS ONE (2012)
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis
Wojciech Wiszniewski et al.
HUMAN GENETICS (2011)
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
Lin Li et al.
PLOS ONE (2011)
Human Retinal Disease from AIPL1 Gene Mutations: Foveal Cone Loss with Minimal Macular Photoreceptors and Rod Function Remaining
Samuel G. Jacobson et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy
Francesco Testa et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells
Lindsay T. Kirschman et al.
HUMAN MOLECULAR GENETICS (2010)
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
Frauke Coppieters et al.
HUMAN MUTATION (2010)
Visual Acuity in Patients with Leber's Congenital Amaurosis and Early Childhood-Onset Retinitis Pigmentosa
Saloni Walia et al.
OPHTHALMOLOGY (2010)
AIPL1, a Protein Associated with Childhood Blindness, Interacts with α-Subunit of Rod Phosphodiesterase (PDE6) and Is Essential for Its Proper Assembly
Saravanan Kolandaivelu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex
Juan Hidalgo-de-Quintana et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Leber congenital amaurosis - A model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson memorial lecture
Edwin M. Stone
AMERICAN JOURNAL OF OPHTHALMOLOGY (2007)
Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients
Francesca Simonelli et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Evaluation of genotype-phenotype associations in Leber congenital amaurosis
JA Galvin et al.
RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2005)
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
XQ Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
V Ramamurthy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Retinal degeneration in Aipl1-deficient mice:: a new genetic model of Leber congenital amaurosis
MA Dyer et al.
MOLECULAR BRAIN RESEARCH (2004)
An overview of Leber congenital amaurosis: A model to understand human retinal development
RK Koenekoop
SURVEY OF OPHTHALMOLOGY (2004)
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations
S Dhamaraj et al.
ARCHIVES OF OPHTHALMOLOGY (2004)
The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments
J van der Spuy et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Mutation screening of Pakistani families with congenital eye disorders
S Khaliq et al.
EXPERIMENTAL EYE RESEARCH (2003)
The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development
J van der Spuy et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
J van der Spuy et al.
HUMAN MOLECULAR GENETICS (2002)
Prevalence of AIPL1 mutations in inherited retinal degenerative disease
MM Sohocki et al.
MOLECULAR GENETICS AND METABOLISM (2000)
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
MM Sohocki et al.
NATURE GENETICS (2000)
Share Paper
