Lista de obras - Oliver E Blacque - Dominio Público Uruguay

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

scientific journal article

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

artículo científico publicado en 2006

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

artículo científico publicado en 2003

Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia

artículo científico publicado en 2006

Cilia Train Spotting

artículo científico publicado en 2016

CiliaCarta: An integrated and validated compendium of ciliary genes

artículo científico publicado en 2019

Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding

artículo científico publicado en 2020

Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease

artículo científico publicado en 2014

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

artículo científico publicado en 2015

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

artículo científico publicado en 2019

Endocytosis genes facilitate protein and membrane transport in C. elegans sensory cilia

artículo científico publicado en 2012

Endosome maturation factors Rabenosyn-5/VPS45 and caveolin-1 regulate ciliary membrane and polycystin-2 homeostasis

artículo científico publicado en 2018

Environmental responsiveness of tubulin glutamylation in sensory cilia is regulated by the p38 MAPK pathway.

artículo científico publicado en 2018

Evidence for a direct interaction between the tumor suppressor serpin, maspin, and types I and III collagen

artículo científico publicado en 2002

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

artículo científico publicado en 2017

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

artículo científico publicado en 2015

Functional coordination of intraflagellar transport motors.

artículo científico publicado en 2005

Functional genomics of intraflagellar transport-associated proteins in C. elegans.

artículo científico publicado en 2009

Functional genomics of the cilium, a sensory organelle

scientific journal article

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

artículo científico publicado en 2009

Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics

artículo científico publicado en 2006

Identification of tubulin deglutamylase among Caenorhabditis elegans and mammalian cytosolic carboxypeptidases (CCPs)

scientific journal article

Image analysis of Caenorhabditis elegans ciliary transition zone structure, ultrastructure, molecular composition, and function

artículo científico publicado en 2015

Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans

artículo científico publicado en 2020

Intraflagellar Transport Complex A Genes Differentially Regulate Cilium Formation and Transition Zone Gating

article

Intraflagellar transport: from molecular characterisation to mechanism

artículo científico publicado en 2008

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

artículo científico publicado en 2015

Localization of a Guanylyl Cyclase to Chemosensory Cilia Requires the Novel Ciliary MYND Domain Protein DAF-25 ⬇️

artículo científico publicado el 24 de noviembre de 2010

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

artículo científico publicado en 2004

MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion

artículo científico publicado en 2011

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis ⬇️

artículo científico publicado en 2011

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

artículo científico publicado en 2016

Membrane retrieval, recycling and release pathways that organise and sculpt the ciliary membrane

artículo científico publicado en 2019

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

artículo científico publicado en 2004

PACRG, a protein linked to ciliary motility, mediates cellular signaling

artículo científico publicado en 2016

Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells.

artículo científico publicado en 2017

Rab GTPases in cilium formation and function.

artículo científico publicado en 2017

Rab35 controls cilium length, function and membrane composition

scientific article published on 21 August 2019

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

artículo científico publicado en 2016

Role for intraflagellar transport in building a functional transition zone

scientific article published on 14 November 2018

Striated rootlet and nonfilamentous forms of rootletin maintain ciliary function

artículo científico publicado en 2013

Structural and Functional Recovery of Sensory Cilia in C. elegans IFT Mutants upon Aging

artículo científico publicado en 2016

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

scientific journal article

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

artículo científico publicado en 2011

The AP-1 clathrin adaptor facilitates cilium formation and functions with RAB-8 in C. elegans ciliary membrane transport.

artículo científico publicado en 2010

The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport.

artículo científico publicado en 2006

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

artículo científico publicado en 2012

The genetics of outer segment morphogenesis in zebrafish.

artículo científico

Transmembrane protein OSTA-1 shapes sensory cilia morphology via regulation of intracellular membrane trafficking in C. elegans

artículo científico publicado en 2013

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport

artículo científico publicado en 2016

Lista de obras de Oliver E Blacque

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Caenorhabditis elegans DYF-2, an orthologue of human WDR19, is a component of the intraflagellar transport machinery in sensory cilia

Cilia Train Spotting

CiliaCarta: An integrated and validated compendium of ciliary genes

Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding

Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease

Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling

Endocytosis genes facilitate protein and membrane transport in C. elegans sensory cilia

Endosome maturation factors Rabenosyn-5/VPS45 and caveolin-1 regulate ciliary membrane and polycystin-2 homeostasis

Environmental responsiveness of tubulin glutamylation in sensory cilia is regulated by the p38 MAPK pathway.

Evidence for a direct interaction between the tumor suppressor serpin, maspin, and types I and III collagen

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes ⬇️

Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance

Functional coordination of intraflagellar transport motors.

Functional genomics of intraflagellar transport-associated proteins in C. elegans.

Functional genomics of the cilium, a sensory organelle

Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

Identification of ciliary and ciliopathy genes in Caenorhabditis elegans through comparative genomics

Identification of tubulin deglutamylase among Caenorhabditis elegans and mammalian cytosolic carboxypeptidases (CCPs)

Image analysis of Caenorhabditis elegans ciliary transition zone structure, ultrastructure, molecular composition, and function

Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans

Intraflagellar Transport Complex A Genes Differentially Regulate Cilium Formation and Transition Zone Gating

Intraflagellar transport: from molecular characterisation to mechanism

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Localization of a Guanylyl Cyclase to Chemosensory Cilia Requires the Novel Ciliary MYND Domain Protein DAF-25 ⬇️

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis ⬇️

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

Membrane retrieval, recycling and release pathways that organise and sculpt the ciliary membrane

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

PACRG, a protein linked to ciliary motility, mediates cellular signaling

Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells.

Rab GTPases in cilium formation and function.

Rab35 controls cilium length, function and membrane composition

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects

Role for intraflagellar transport in building a functional transition zone

Striated rootlet and nonfilamentous forms of rootletin maintain ciliary function

Structural and Functional Recovery of Sensory Cilia in C. elegans IFT Mutants upon Aging

TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome ⬇️

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone

The AP-1 clathrin adaptor facilitates cilium formation and functions with RAB-8 in C. elegans ciliary membrane transport.

The WD repeat-containing protein IFTA-1 is required for retrograde intraflagellar transport.

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

The genetics of outer segment morphogenesis in zebrafish.

Transmembrane protein OSTA-1 shapes sensory cilia morphology via regulation of intracellular membrane trafficking in C. elegans

Whole-Organism Developmental Expression Profiling Identifies RAB-28 as a Novel Ciliary GTPase Associated with the BBSome and Intraflagellar Transport