The centrosome in human genetic disease (Q36058438)

11 August 2017

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title

The centrosome in human genetic disease (English)

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11 August 2017

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GOA release 2020-03-11

author

Nicholas Katsanis

series ordinal

3

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11 August 2017

Jose L Badano

1

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Tanya M Teslovich

series ordinal

2

object named as

Tanya M Teslovich

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11 August 2017

language of work or name

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1 March 2005

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11 August 2017

published in

Nature Reviews Genetics

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11 August 2017

volume

6

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11 August 2017

issue

3

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11 August 2017

page(s)

194-205

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Re-evaluating centrosome function

11 August 2017

cites work

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Centrosome composition and microtubule anchoring mechanisms

21 January 2018

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Polar expeditions--provisioning the centrosome for mitosis.

21 January 2018

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Centrosome-independent mitotic spindle formation in vertebrates

21 January 2018

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Requirement of a centrosomal activity for cell cycle progression through G1 into S phase

21 January 2018

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Functional role of centrosomes in spindle assembly and organization

21 January 2018

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"It takes two to tango": understanding how centrosome duplication is regulated throughout the cell cycle

21 January 2018

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The centriole cycle in synchronized HeLa cells

21 January 2018

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Centrosome aberrations: cause or consequence of cancer progression?

21 January 2018

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Centrosome amplification and a defective G2-M cell cycle checkpoint induce genetic instability in BRCA1 exon 11 isoform-deficient cells

21 January 2018

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Abnormal centrosome amplification in the absence of p53.

21 January 2018

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The human papillomavirus type 16 E6 and E7 oncoproteins cooperate to induce mitotic defects and genomic instability by uncoupling centrosome duplication from the cell division cycle

21 January 2018

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GMAP-210 recruits gamma-tubulin complexes to cis-Golgi membranes and is required for Golgi ribbon formation

21 January 2018

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Proteomic characterization of the human centrosome by protein correlation profiling

21 January 2018

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Regulation of the TGFbeta signalling pathway by ubiquitin-mediated degradation

21 January 2018

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Ubiquitin-dependent regulation of the synapse.

21 January 2018

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The anaphase-promoting complex: proteolysis in mitosis and beyond

21 January 2018

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Proteasomes and their kin: proteases in the machine age

21 January 2018

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Dynamic association of proteasomal machinery with the centrosome

21 January 2018

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Alzheimer's disease and Parkinson's disease

21 January 2018

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Familial juvenile parkinsonism: clinical and pathologic study in a family

21 January 2018

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

21 January 2018

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Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

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Parkin is recruited to the centrosome in response to inhibition of proteasomes

21 January 2018

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alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies

21 January 2018

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α-Synuclein in Lewy bodies

21 January 2018

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Impairment of the ubiquitin-proteasome system causes dopaminergic cell death and inclusion body formation in ventral mesencephalic cultures

21 January 2018

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NACP, a protein implicated in Alzheimer's disease and learning, is natively unfolded

21 January 2018

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Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease

21 January 2018

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Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy

21 January 2018

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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

21 January 2018

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Macromolecular crowding: an important but neglected aspect of the intracellular environment

21 January 2018

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Accelerated alpha-synuclein fibrillation in crowded milieu

21 January 2018

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New directions in neuronal migration

21 January 2018

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Distribution of microtubule organizing centers in migrating sheets of endothelial cells

21 January 2018

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Centrosome positioning and directionality of cell movements.

21 January 2018

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Genetic malformations of the human cerebral cortex

21 January 2018

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LIS1 and dynein motor function in neuronal migration and development

21 January 2018

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Doublecortin is a developmentally regulated, microtubule-associated protein expressed in migrating and differentiating neurons

21 January 2018

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Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

21 January 2018

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

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Nuclear migration, nucleokinesis and lissencephaly

21 January 2018

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Accumulation of cytoplasmic dynein and dynactin at microtubule plus ends in Aspergillus nidulans is kinesin dependent

21 January 2018

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Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.

21 January 2018

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Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1

21 January 2018

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Microtubule release from the centrosome in migrating cells

21 January 2018

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The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC

21 January 2018

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NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein

21 January 2018

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A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system

21 January 2018

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LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome

21 January 2018

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Cytoskeletal-associated proteins in the migration of cortical neurons.

21 January 2018

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Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

21 January 2018

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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome

21 January 2018

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Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

21 January 2018

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Doublecortin mutations cluster in evolutionarily conserved functional domains

21 January 2018

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Doublecortin, a stabilizer of microtubules

21 January 2018

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Interaction between LIS1 and doublecortin, two lissencephaly gene products

21 January 2018

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DISC1 localizes to the centrosome by binding to kendrin

21 January 2018

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DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation

21 January 2018

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Molecular genetics of bipolar disorder.

21 January 2018

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Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders

21 January 2018

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Disrupted-In-Schizophrenia 1, a candidate gene for schizophrenia, participates in neurite outgrowth

21 January 2018

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Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth

21 January 2018

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Cytoplasmic dynein and dynactin are required for the transport of microtubules into the axon

21 January 2018

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Hereditary spastic paraplegia: spastin phenotype and function

21 January 2018

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

21 January 2018

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Axonal growth is sensitive to the levels of katanin, a protein that severs microtubules

21 January 2018

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Identification of katanin, an ATPase that severs and disassembles stable microtubules

21 January 2018

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The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

21 January 2018

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Chlamydomonas DIP13 and human NA14: a new class of proteins associated with microtubule structures is involved in cell division.

21 January 2018

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Understanding the functions of kinesin-II.

21 January 2018

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The hunt for huntingtin function: interaction partners tell many different stories

21 January 2018

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Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin

21 January 2018

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Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules

21 January 2018

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HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain

21 January 2018

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HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system

21 January 2018

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Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi

21 January 2018

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IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia

21 January 2018

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

21 January 2018

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Centrosome disorganization in fibroblast cultures derived from R6/2 Huntington's disease (HD) transgenic mice and HD patients

21 January 2018

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The vertebrate primary cilium is a sensory organelle

21 January 2018

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21 January 2018

Intraflagellar transport

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Reversal of left-right asymmetry: a situs inversus mutation.

21 January 2018

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A perspective on inversin

21 January 2018

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Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle

21 January 2018

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The left-right determinant Inversin is a component of node monocilia and other 9+0 cilia.

21 January 2018

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Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells

21 January 2018

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The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

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

21 January 2018

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The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

21 January 2018

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

21 January 2018

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

21 January 2018

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Assembly of centrosomal proteins and microtubule organization depends on PCM-1

21 January 2018

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Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis

21 January 2018

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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

21 January 2018

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

21 January 2018

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The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

21 January 2018

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Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

21 January 2018

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

21 January 2018

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Mechanisms of left-right determination in vertebrates

21 January 2018

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Intraflagellar transport and cilia-dependent diseases.

21 January 2018

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Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

21 January 2018

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Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

21 January 2018

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LIS1 association with dynactin is required for nuclear motility and genomic union in the fertilized mammalian oocyte

21 January 2018

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Histone ubiquitination and chromatin remodeling in mouse spermatogenesis.

21 January 2018

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Ubiquitination of prohibitin in mammalian sperm mitochondria: possible roles in the regulation of mitochondrial inheritance and sperm quality control

21 January 2018

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Two major autoantigen-antibody systems of the mitotic spindle apparatus.

21 January 2018

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PCM-1, A 228-kD centrosome autoantigen with a distinct cell cycle distribution

21 January 2018

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Purine nucleoside phosphorylase is associated with centrioles and basal bodies

21 January 2018

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Direct evidence of autosomal recessive inheritance of Arg24 to termination codon in purine nucleoside phosphorylase gene in a family with a severe combined immunodeficiency patient

21 January 2018

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Possible implication of Golgi-nucleating function for the centrosome

21 January 2018

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Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

21 January 2018

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Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

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Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome

21 January 2018

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Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity

21 January 2018

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Dorfin prevents cell death by reducing mitochondrial localizing mutant superoxide dismutase 1 in a neuronal cell model of familial amyotrophic lateral sclerosis

21 January 2018

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Cloning, analysis, and chromosomal localization of myoxin (MYH12), the human homologue to the mouse dilute gene

21 January 2018

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Localization of myosin-V in the centrosome

21 January 2018

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Detection of NPM/MLF1 fusion in t(3;5)-positive acute myeloid leukemia and myelodysplasia

21 January 2018

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A poly(ADP-ribose) polymerase haplotype spanning the promoter region confers susceptibility to rheumatoid arthritis

21 January 2018

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Central Role for the Werner Syndrome Protein/Poly(ADP-Ribose) Polymerase 1 Complex in the Poly(ADP-Ribosyl)ation Pathway after DNA Damage

21 January 2018

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RET/PCM-1: a novel fusion gene in papillary thyroid carcinoma

21 January 2018

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Organization, expression and polymorphism of the human persyn gene

21 January 2018

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Role of microtubules in the organization of the Golgi complex

21 January 2018

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Supernumerary centrosomes and cancer: Boveri's hypothesis resurrected

31 March 2020

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Activity and regulation of the centrosome-associated proteasome

31 March 2020

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Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

31 March 2020

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Synphilin-1 is present in Lewy bodies in Parkinson's disease

31 March 2020

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Structure/function in neuroprotection and apoptosis.

31 March 2020

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Degradation of alpha-synuclein by proteasome

31 March 2020

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Molecular crowding accelerates fibrillization of alpha-synuclein: could an increase in the cytoplasmic protein concentration induce Parkinson's disease?

31 March 2020

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NudC associates with Lis1 and the dynein motor at the leading pole of neurons

31 March 2020

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Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning

31 March 2020

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Motility and cytoskeletal organization of migrating cerebellar granule neurons

31 March 2020

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Inhibition of microtubule nucleation at the neuronal centrosome compromises axon growth

31 March 2020

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Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

31 March 2020

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Small GTP-binding proteins

31 March 2020

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MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

31 March 2020

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Centrosome and spindle pole body dynamics. Review and abstracts of the EMBO/EMBL Conference on Centrosomes and Spindle Pole Bodies, Heidelberg, September 13-17, 2002

31 March 2020

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Mutations in the Plk gene lead to instability of Plk protein in human tumour cell lines

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRG1557

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Dimensions Publication ID

11 August 2017

1000190516

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