Medical Knowledge Cockpit leber congenital amaurosis

CEP290

• In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

IMPDH1

• Two distinct cDNAs for human IMP dehydrogenase

RDH12

• The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative

LRAT

• Molecular and biochemical characterization of lecithin retinol acyltransferase

TULP1

• Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3

KCNJ13

• Inwardly rectifying K+ channel Kir7.1 is highly expressed in thyroid follicular cells, intestinal epithelial cells and choroid plexus epithelial cells: implication for a functional coupling with Na+,K+-ATPase

GDF6

• Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily

RPE65

• Function of the protein RPE65 in the visual cycle
• Membrane-binding and enzymatic properties of RPE65
• Chemistry of the retinoid (visual) cycle
• Catalytic mechanism of a retinoid isomerase essential for vertebrate vision

SPATA7

• Complete sequencing and characterization of 21,243 full-length human cDNAs.

AIPL1

• The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments
• Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies

LCA5

• Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

RPGRIP1

• RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin
• Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis

CRX

• Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis
• Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

CRB1

• Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

NMNAT1

• Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis

• TGF-beta signaling pathway
  Homo sapiens (human) one gene

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