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Identification of a common non-apoptotic cell death mechanism in hereditary retinal degenerationIsolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsCalpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant ratsExcessive HDAC activation is critical for neurodegeneration in the rd1 mouse.Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.DNA methylation and differential gene regulation in photoreceptor cell death.Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors.IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosaFunctional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility
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P50
description
hulumtues
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Pietro Farinelli
@ast
Pietro Farinelli
@en
Pietro Farinelli
@es
Pietro Farinelli
@nl
Pietro Farinelli
@sl
type
label
Pietro Farinelli
@ast
Pietro Farinelli
@en
Pietro Farinelli
@es
Pietro Farinelli
@nl
Pietro Farinelli
@sl
prefLabel
Pietro Farinelli
@ast
Pietro Farinelli
@en
Pietro Farinelli
@es
Pietro Farinelli
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Pietro Farinelli
@sl
P1053
G-8000-2017
P106
P21
P31
P3829
P496
0000-0002-4242-3090