An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
about
From Planar Cell Polarity to Ciliogenesis and Back: The Curious Tale of the PPE and CPLANE proteins.Insights into cancer severity from biomolecular interaction mechanisms.Cell signalling pathway regulation by RanBPM: molecular insights and disease implications.Ciliary entry of KIF17 is dependent on its binding to the IFT-B complex via IFT46-IFT56 as well as on its nuclear localization signal.Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors.Basal cell carcinoma pathogenesis and therapy involving hedgehog signaling and beyond.The Intraflagellar Transport Machinery.Structural basis of outer dynein arm intraflagellar transport by the transport adaptor protein ODA16 and the intraflagellar transport protein IFT46.Motile and non-motile cilia in human pathology: from function to phenotypes.The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase.Nuclear roles for cilia-associated proteins.Genes and molecular pathways underpinning ciliopathies.Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes.Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family.Genetic variants affecting equivalent protein family positions reflect human diversity.Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling.The Gene Ontology of eukaryotic cilia and flagella.Ciliary protein trafficking mediated by IFT and BBSome complexes with the aid of kinesin-2 and dynein-2 motors.Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Ciliogenesis and cell cycle alterations contribute to KIF2A-related malformations of cortical development.Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.Glucose deprivation induces primary cilium formation through mTORC1 inactivation.Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.Signaling through the Primary Cilium.Crystal structure of intraflagellar transport protein 80 reveals a homo-dimer required for ciliogenesis.Robust interaction of IFT70 with IFT52-IFT88 in the IFT-B complex is required for ciliogenesis.BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex.Sending mixed signals: Cilia-dependent signaling during development and disease.Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.The evolutionary conserved FOXJ1 target gene Fam183b is essential for motile cilia in Xenopus but dispensable for ciliary function in miceidentification and biochemical characterization of the human dicarboxylate clamp TPR protein interaction networkHomozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityCiliary landscape
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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
description
2016 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի մայիսին հրատարակված գիտական հոդված
@hy
article publié dans Nature Communications
@fr
artículu científicu espublizáu en 2016
@ast
im Mai 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2016/05/13)
@nl
наукова стаття, опублікована в травні 2016
@uk
مقالة علمية (نشرت في 13-5-2016)
@ar
name
An organelle-specific protein ...... eases and molecular mechanisms
@ast
An organelle-specific protein ...... eases and molecular mechanisms
@en
type
label
An organelle-specific protein ...... eases and molecular mechanisms
@ast
An organelle-specific protein ...... eases and molecular mechanisms
@en
prefLabel
An organelle-specific protein ...... eases and molecular mechanisms
@ast
An organelle-specific protein ...... eases and molecular mechanisms
@en
P2093
P2860
P50
P3181
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An organelle-specific protein ...... eases and molecular mechanisms
@en
P2093
Barbara Knapp
Brooke Latour
Carlo L Marcelis
Dagan Jenkins
Daniela Iaconis
Dorus A Mans
Dragana Mitic
Emine Bolat
Erica E Davis
Erik de Vrieze
P2860
P2888
P3181
P356
10.1038/NCOMMS11491
P407
P50
P577
2016-05-13T00:00:00Z
P5875
P6179
1011167377