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Ophthalmic Genetics, ISSN 1381-6810, 07/2019, Volume 40, Issue 4, pp. 380 - 384
Purpose: To investigate the disease-causing gene in a Chinese family with Leber congenital amaurosis 4 (LCA4). Materials and methods: Four members of an LCA... 
nonsense mutation | Leber congenital amaurosis 4 | keratoconus | AIPL1 | whole exome sequencing
Journal Article
Advances in Protein Chemistry and Structural Biology, ISSN 1876-1623, 01/2019, Volume 114, pp. 85 - 117
Defects in protein folding and trafficking are a common cause of photoreceptor degeneration, causing blindness. Photoreceptor cells present an unusual... 
Ric8A | Photoreceptor | Chaperonin CCT | PDE6D | Transducin | UNC119 | AIPL1 | Phosducin | Phosphodiesterase
Conference Proceeding
Journal Article
Journal Article
Toxicology and Applied Pharmacology, ISSN 0041-008X, 12/2013, Volume 273, Issue 2, pp. 401 - 409
Journal Article
European Journal of Ophthalmology, ISSN 1120-6721, 07/2016, Volume 26, Issue 1, pp. 78 - 84
Purpose: To introduce the first Hungarian patients with genetically defined Leber congenital amaurosis (LCA) and to report 2 novel mutations. Methods: Seven... 
CRB1 | AIPL1 | Novel mutations | CEP290 | PHENOTYPE | IDENTIFICATION | MOLECULAR DIAGNOSIS | INHERITED RETINAL DYSTROPHIES | DISEASE | OPHTHALMOLOGY | MODIFIER ALLELES | RETINITIS-PIGMENTOSA | PHOTORECEPTORS
Journal Article
Journal Article
Cellular Signalling, ISSN 0898-6568, 09/2017, Volume 37, pp. 74 - 80
Mutations in genes encoding the effector enzymes in rods and cones underlie severe retinal diseases including retinitis pigmentosa (RP), autosomal dominant... 
Retina | AIPL1 | Phosphodiesterases | Achromatopsia | Chaperone | Photoreceptor | PHOTORECEPTOR PHOSPHODIESTERASE | DOMAIN | RECESSIVE RETINITIS-PIGMENTOSA | ROD CGMP-PHOSPHODIESTERASE | CATALYTIC SUBUNITS | CELL BIOLOGY | GENE | GAMMA-SUBUNIT | BETA-SUBUNIT | CONGENITAL AMAUROSIS | STATIONARY NIGHT BLINDNESS | Retinal Diseases - genetics | Night Blindness - metabolism | Humans | Retinal Diseases - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Mutation, Missense | Protein Prenylation | Color Vision Defects - genetics | Myopia - metabolism | HEK293 Cells | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Night Blindness - genetics | Color Vision Defects - metabolism | Cyclic Nucleotide Phosphodiesterases, Type 6 - analysis | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Gene Expression | Models, Molecular | Genetic Diseases, X-Linked - metabolism | Eye Proteins - analysis | Protein Folding | Eye Diseases, Hereditary - genetics | Myopia - genetics | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Adaptor Proteins, Signal Transducing - genetics | Mice | Adaptor Proteins, Signal Transducing - metabolism | Eye Diseases, Hereditary - metabolism | Physiological aspects | Enzymes | Retinal diseases | Analysis | phosphodiesterases | chaperone | achromatopsia | retina | photoreceptor
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, p. e0131679
Journal Article
Journal Article
FRONTIERS IN PHARMACOLOGY, ISSN 1663-9812, 12/2018, Volume 9, p. 1425
In recent years, many members of the FK506-binding protein (FKBP) family were increasingly linked to various diseases. The binding domain of FKBPs differs only... 
IMMUNOSUPPRESSANT FK506 | SMALL-MOLECULE CONTROL | FKBP12 | Rapamycin | FKBP ligands | FK506 | FK506-BINDING PROTEIN | HEAT-SHOCK-PROTEIN | TILTED HELIX BUNDLE | FK506 BINDING-PROTEIN | PROLYL ISOMERASE FKBP25 | IN-VITRO | SAFit | MIP | PHARMACOLOGY & PHARMACY | AIPL1 | IMMUNOPHILIN-LIGANDS | FKBP51 | TETRATRICOPEPTIDE REPEAT PROTEINS | Binding proteins | Ligands | Research
Journal Article