Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease.

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Journal of Clinical Investigation

• Publication date

  2011-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1172/JCI57552PMID 21985783PMCID PMC3223861
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Subcellular Spatial Regulation of Canonical Wnt Signaling at the Primary Cilium

  2011influential reference
• The primary cilium: a signalling centre during vertebrate development

  2010cited by this paper
• Mutant huntingtin‐impaired degradation of β‐catenin causes neurotoxicity in Huntington's disease

  2010cited by this paper
• Huntingtin is required for mitotic spindle orientation and mammalian neurogenesis.

  2010cited by this paper
• pARIS-htt: an optimised expression platform to study huntingtin reveals functional domains required for vesicular trafficking

  2010cited by this paper
• Brain-specific Proteins Decline in the Cerebrospinal Fluid of Humans with Huntington Disease

  2009cited by this paper
• Markers for neuronal cilia.

  2009cited by this paper
• Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons

  2008cited by this paper
• Cerebrospinal Fluid Research BioMed Central Review Multiplicity of cerebrospinal fluid functions: New challenges in health and disease

  2008cited by this paper
• CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

  2008cited by this paper
• Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.

  2008cited by this paper
• Neural stem cells confer unique pinwheel architecture to the ventricular surface in neurogenic regions of the adult brain.

  2008cited by this paper
• Congenital hydrocephalus associated with abnormal subcommissural organ in mice lacking huntingtin in Wnt1 cell lineages.

  2008influential reference
• Multiplicity of cerebrospinal fluid functions: New challenges in health and disease

  2008cited by this paper
• The Proteome of the Mouse Photoreceptor Sensory Cilium Complex*S

  2007cited by this paper
• Structure and duplication of the centrosome

  2007cited by this paper
• Olfactory abnormalities in Huntington's disease: decreased plasticity in the primary olfactory cortex of R6/1 transgenic mice and reduced olfactory discrimination in patients.

  2007cited by this paper
• Huntingtin facilitates dynein/dynactin-mediated vesicle transport

  2007cited by this paper
• A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

  2007cited by this paper
• New Neurons Follow the Flow of Cerebrospinal Fluid in the Adult Brain

  2006influential reference
• Human Genome & Diseases: Review Huntington's disease: from huntingtin function and dysfunction to therapeutic strategies

  2006cited by this paper
• The centrosome in human genetic disease

  2005influential reference
• Dysfunctional cilia lead to altered ependyma and choroid plexus function, and result in the formation of hydrocephalus

  2005cited by this paper
• Feature point tracking and trajectory analysis for video imaging in cell biology.

  2005cited by this paper
• The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

  2004cited by this paper
• Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules.

  2004influential reference
• Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

  2004cited by this paper
• Huntingtin-associated protein 1 (Hap1) mutant mice bypassing the early postnatal lethality are neuroanatomically normal and fertile but display growth retardation.

  2004cited by this paper
• Lack of Huntingtin-Associated Protein-1 Causes Neuronal Death Resembling Hypothalamic Degeneration in Huntington's Disease

  2003cited by this paper
• Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice.

  2002cited by this paper
• Assembly of centrosomal proteins and microtubule organization depends on PCM-1

  2002cited by this paper
• Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

  2002cited by this paper
• Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells.

  2000cited by this paper
• Analysis of huntingtin‐associated protein 1 in mouse brain and immortalized striatal neurons

  1999cited by this paper
• Interaction of Huntingtin-Associated Protein with Dynactin P150Glued

  1998cited by this paper
• Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin.

  1997cited by this paper
• A huntingtin-associated protein enriched in brain with implications for pathology

  1995cited by this paper
• Neuropathological Classification of Huntington's Disease

  1985cited by this paper

• Mouse models to interrogate the developmental pathogenesis of Huntington's disease.

  2026cites this paper
• Identification of New Ciliary Signaling Pathways in the Brain and Insights into Neurological Disorders

  2025cites this paper
• Influence of palmitoylation in axonal transport mechanisms in neurodegenerative diseases

  2025cites this paper
• Molecular treatment options for patients carrying KIAA0586/TALPID3 variants

  2025cites this paper
• Modelling human adult V-SVZ niche assembly and ependymal cell generation in brain organoids

  2025cites this paper
• The role of primary cilia in physiological and pathological states of the central nervous system.

  2025cites this paper
• Insights into neurodevelopmental features of Huntington's disease from stem cell-derived models including organoids.

  2025cites this paper
• The Impact of Neurotoxin Proteins Trafficked by Primary Cilia and Extracellular Vesicles in Neurodegenerative Diseases

  2025influential citation
• Tubulin Acetylation: A Critical Regulator of Microtubule Function.

  2025cites this paper
• Hydrocephalus: Molecular and Neuroimaging Biomarkers in Diagnosis and Management

  2025cites this paper
• A conserved role for centriolar satellites in translation of centrosomal and ciliary proteins

  2025cites this paper
• Dysregulated astrocyte cholesterol synthesis in Huntington's disease: A potential intersection with other cellular dysfunctions

  2025influential citation
• mTOR controls ependymal cell differentiation by targeting the alternative cell cycle and centrosomal proteins

  2025cites this paper
• CEP72 Emerges as a Key Centriolar Satellite Protein in Health and Disease

  2025cites this paper
• MicroRNAs in the biology and hallmarks of neurodegenerative diseases.

  2025cites this paper
• Adherent junctions: Physiology, role in hydrocephalus and potential therapeutic targets

  2025cites this paper
• Genetic association between human skin microbiota with vaginitis: a two-sample Mendelian randomization study

  2025cites this paper
• Advances in gene and cellular therapeutic approaches for Huntington’s disease

  2024cites this paper
• Huntington’s disease cellular phenotypes are rescued non-cell autonomously by healthy cells in mosaic telencephalic organoids

  2024cites this paper
• Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions

  2024cites this paper
• Proximity‐dependent biotinylation reveals an interaction between ubiquitin‐specific peptidase 46 and centrosome‐related proteins

  2024cites this paper
• Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington’s disease

  2024influential citation
• Multiciliated ependymal cells: an update on biology and pathology in the adult brain

  2024influential citation
• Subtyping monogenic disorders: Huntington disease.

  2023cites this paper
• Tubulin Post-Translational Modifications: The Elusive Roles of Acetylation

  2023cites this paper
• Binding by calmodulin is coupled to transient unfolding of the third FF domain of Prp40A

  2023cites this paper
• Identification of new ciliary signaling pathways in the brain and insights into neurological disorders

  2023cites this paper
• Huntingtin bundles and changes the local proteome of actin filaments in neurons

  2023cites this paper
• Role of lipids in the control of autophagy and primary cilium signaling in neurons

  2023cites this paper
• Gentherapie der Huntington-Krankheit

  2022influential citation
• Huntingtin and Other Neurodegeneration-Associated Proteins in the Development of Intracellular Pathologies: Potential Target Search for Therapeutic Intervention

  2022cites this paper
• Ependymal cells and neurodegenerative disease: outcomes of compromised ependymal barrier function

  2022cites this paper
• Host genetic factors related to innate immunity, environmental sensing and cellular functions are associated with human skin microbiota

  2022cites this paper
• Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains

  2022cites this paper
• Flying under the radar: CDH2 (N-cadherin), an important hub molecule in neurodevelopmental and neurodegenerative diseases

  2022cites this paper
• Carnitine Protects against MPP+-Induced Neurotoxicity and Inflammation by Promoting Primary Ciliogenesis in SH-SY5Y Cells

  2022cites this paper
• A pathogenic proteolysis–resistant huntingtin isoform induced by an antisense oligonucleotide maintains huntingtin function

  2022cites this paper
• Ependymal Cilia: Physiology and Role in Hydrocephalus

  2022cites this paper
• Recent Microscopy Advances and the Applications to Huntington’s Disease Research

  2022cites this paper
• Crosstalk between cilia and autophagy: implication for human diseases

  2022cites this paper
• Aggresome assembly at the centrosome is driven by CP110–CEP97–CEP290 and centriolar satellites

  2022cites this paper
• Gene targeting techniques for Huntington's disease.

  2021cites this paper
• The essential role of primary cilia in cerebral cortical development and disorders.

  2021cites this paper
• Involvement of Huntingtin in Development and Ciliary Beating Regulation of Larvae of the Sea Urchin, Hemicentrotus pulcherrimus

  2021cites this paper
• Trisomy 21 increases microtubules and disrupts centriolar satellite localization

  2021cites this paper
• Cooperation of cell adhesion and autophagy in the brain: Functional roles in development and neurodegenerative disease

  2021cites this paper
• Neuropathological Examinations in the Mouse Brain-Investigation of a New Pharmaceutical Target in the Cuprizone Model and Comparative Histological Analyses of Primary Cilia in the Physiological Central Nervous System

  2021cites this paper
• Primary Cilia in Glial Cells: An Oasis in the Journey to Overcoming Neurodegenerative Diseases

  2021cites this paper
• Prenatal alcohol exposure disrupts Sonic hedgehog pathway and primary cilia genes in the mouse neural tube.

  2021cites this paper
• Targeted Ablation of Primary Cilia in Differentiated Dopaminergic Neurons Reduces Striatal Dopamine and Responsiveness to Metabolic Stress

  2021cites this paper
• Centriolar satellite biogenesis and function in vertebrate cells

  2020cites this paper
• The CP110-CEP97-CEP290 module orchestrates a centriolar satellite dependent response to proteotoxic stress

  2020influential citation
• PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

  2020cites this paper
• Cilia interactome with predicted protein–protein interactions reveals connections to Alzheimer’s disease, aging and other neuropsychiatric processes

  2020cites this paper
• Loss of Hap1 selectively promotes striatal degeneration in Huntington disease mice

  2020cites this paper
• Oxidations and amino acid substitutions in urinary proteins are the distinguishing characteristics of aging

  2020cites this paper
• Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.

  2020cites this paper
• Role of tubulin acetylation in cellular functions and diseases

  2020cites this paper
• Huntington’s Disease—An Outlook on the Interplay of the HTT Protein, Microtubules and Actin Cytoskeletal Components

  2020influential citation
• Huntingtin-Associated Protein 1 in Mouse Hypothalamus Stabilizes Glucocorticoid Receptor in Stress Response

  2020cites this paper
• DNA Damage Repair in Huntington’s Disease and Other Neurodegenerative Diseases

  2019cites this paper
• Genomics and personalised medicine : diagnostics, deep phenotyping and pharmacogenomics in cohorts of rare disease patients

  2019cites this paper
• The conserved ancestral signaling pathway from cilium to nucleus

  2019influential citation
• The Autophagy-Cilia Axis: An Intricate Relationship

  2019cites this paper
• What went wrong with variant effect predictor performance for the PCM1 challenge

  2019cites this paper
• Cilia and development.

  2019cites this paper
• TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons

  2019cites this paper
• Primary cilia dysfunction as a novel pathogenic mechanism of prenatal alcohol-induced birth defects

  2019cites this paper
• Prenatal alcohol exposure disrupts Shh pathway and primary cilia genes in the mouse neural tube 5 6

  2019cites this paper
• Targeted Depletion of Primary Cilia in Dopaminoceptive Neurons in a Preclinical Mouse Model of Huntington’s Disease

  2019cites this paper
• A Flow Cytometry-Based Approach for the Isolation and Characterization of Neural Stem Cell Primary Cilia

  2019cites this paper
• Prenatal alcohol exposure disrupts Shh pathway and primary cilia genes in the mouse neural tube

  2019cites this paper
• Cerebrospinal fluid flow dynamics in Huntington's disease evaluated by phase contrast MRI

  2019cites this paper
• Progerin-Induced Transcriptional Changes in Huntington’s Disease Human Pluripotent Stem Cell-Derived Neurons

  2019cites this paper
• Roles of Primary Cilia in the Developing Brain

  2019cites this paper
• Unconventional Secretion and Intercellular Transfer of Mutant Huntingtin

  2018cites this paper
• Chromosomal instability during neurogenesis in Huntington's disease

  2018cites this paper
• Primary Cilia in Brain Development and Diseases.

  2018cites this paper
• Sirtuins as Modifiers of Huntington's Disease (HD) Pathology.

  2018cites this paper
• Subventricular zone lipidomic architecture loss in Huntington's disease

  2018cites this paper
• The Ciliary Protein IFT57 in the Macronucleus of Paramecium

  2018cites this paper
• Osmotic Stress Blocks Mobility and Dynamic Regulation of Centriolar Satellites

  2018cites this paper
• Huntington’s disease: the coming of age

  2018cites this paper
• Analysis of Huntingtin Protein Aggregation Mechanisms and the Development of a Clinically-Derived Human Cell Model of Huntington's Disease

  2018cites this paper
• Centrobin functions in centriole duplication, primary ciliogenesis and genome maintenance

  2018cites this paper
• ODF2L is a negative regulator of ciliogenesis

  2018cites this paper
• Huntingtin Is Required for Neural But Not Cardiac/Pancreatic Progenitor Differentiation of Mouse Embryonic Stem Cells In vitro

  2017cites this paper
• Két autofágia aktiváló kismolekula, az AUTEN-67 és az AUTEN-99 hatásának vizsgálata Drosophila melanogaster Huntington-kór modellben

  2017cites this paper
• Role of Dynein Axonemal Heavy Chain 6 Gene Expression as a Possible Biomarker for Huntington’s Disease: a Translational Study

  2017influential citation
• Is Huntingtin Dispensable in the Adult Brain?

  2017influential citation
• Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases

  2017influential citation
• Proteins Containing Expanded Polyglutamine Tracts and Neurodegenerative Disease.

  2017cites this paper
• Ciliary Defects in a Mouse Model of Bardet–Biedl Syndrome are Selectively Pronounced in Brain Regions Involved in Cardiovascular Regulation

  2017cites this paper
• Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs

  2017cites this paper
• The development and functions of multiciliated epithelia

  2017cites this paper
• Serine 421 regulates mutant huntingtin toxicity and clearance in mice.

  2016cites this paper
• The Biology of Huntingtin.

  2016cites this paper
• Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells

  2016cites this paper
• GEMC1 is a critical regulator of multiciliated cell differentiation

  2016cites this paper
• Regulation of centriolar satellite integrity and its physiology

  2016cites this paper