Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 Proteins (RPGRIP1)

Human Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) interaction partners

1. Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (show CLTA Proteins) (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA (show CLTA Proteins) patient. These novel mutations were co-segregated with the disease phenotype in their families.

2. Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and.

3. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]

4. SPATA7 (show SPATA7 Proteins) plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3 (show SPATA7 Proteins)/juvenile RP patients

5. Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA (show CLTA Proteins)), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA (show CLTA Proteins).

6. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations.

7. We report a novel RPGRIP1 mutation causing LCA (show CLTA Proteins) in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far.

8. Recessive RPGRIP1 mutations cause a severe cone-rod Leber congenital amaurosis phenotype, often with poor or no fixation and an oculodigital sign. In the first decade of life retinal changes are clinically most evident in the periphery.

9. RPGRIP1 in human and in canine model involves protein network and photoreceptor cilia.

10. Nek4 interaction with both RPGRIP1 and the RPGRIP1L is involved in cilium assembly.

Mouse (Murine) Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) interaction partners

1. the results of this study indicate that the effects of FTO-associated SNPs on energy homeostasis are due in part to the effects of these genetic variations on hypothalamic FTO, RPGRIP1L, and possibly other genes.

2. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]

3. RPGRIP1 loss in photoreceptors shifts the subcellular partitioning of SDCCAG8 (show SDCCAG8 Proteins) and NPHP4 (show NPHP4 Proteins) to the membrane fraction associated to the endoplasmic reticulum.

4. RPGRIP1 is essential for rod photoreceptor outer segment morphogenesis.

5. RPGRIP1 and nephrocystin-4 (show NPHP4 Proteins) interact strongly in vitro and in vivo, and that they colocalize in the retina

Cow (Bovine) Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 (RPGRIP1) interaction partners

1. RPGR (show RPGR Proteins) and RPGRIP isoforms are distributed and co-localized at restricted foci throughout the outer segments of human and bovine, but not mice rod photoreceptors.

2. RPGRIP1 and nephrocystin-4 (show NPHP4 Proteins) interact strongly in vitro and in vivo, and that they colocalize in the retina