Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. (Q34077939)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22096584%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy (English)

1 reference

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16 January 2020

main subject

centronuclear myopathy

1 reference

4

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16 January 2020

5

Kathryn N North

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16 January 2020

author name string

Olga S Koutsopoulos

1

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16 January 2020

Catherine Koch

2

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16 January 2020

Valerie Tosch

3

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16 January 2020

Jocelyn Laporte

6

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16 January 2020

language of work or name

English

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publication date

11 November 2011

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16 January 2020

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16 January 2020

volume

6

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16 January 2020

issue

11

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16 January 2020

page(s)

e27498

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Creative Commons Attribution 4.0 International

16 January 2020

copyright license

start time

11 November 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3214065/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients

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Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers

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Src kinase regulates the integrity and function of the Golgi apparatus via activation of dynamin 2

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Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits

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Overexpressing temperature-sensitive dynamin decelerates phototransduction and bundles microtubules in Drosophila photoreceptors.

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Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant

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An intramolecular signaling element that modulates dynamin function in vitro and in vivo

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

5 July 2018

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Isoform and splice-variant specific functions of dynamin-2 revealed by analysis of conditional knock-out cells.

5 July 2018

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Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

5 July 2018

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The dynamin middle domain is critical for tetramerization and higher-order self-assembly

5 July 2018

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Dynasore, a cell-permeable inhibitor of dynamin

5 July 2018

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Mutations in dynamin 2 cause dominant centronuclear myopathy

5 July 2018

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Actin and Arf1-dependent recruitment of a cortactin-dynamin complex to the Golgi regulates post-Golgi transport

5 July 2018

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

5 July 2018

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Regulation of Bin1 SH3 domain binding by phosphoinositides

5 July 2018

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Clinical and histologic findings in autosomal centronuclear myopathy

5 July 2018

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The stalk region of dynamin drives the constriction of dynamin tubes

5 July 2018

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5 July 2018

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Inhibition of receptor-mediated endocytosis by the amphiphysin SH3 domain

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Identification of dynamin 2, an isoform ubiquitously expressed in rat tissues

5 July 2018

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Isolation of an ubiquitously expressed cDNA encoding human dynamin II, a member of the large GTP-binding protein family

5 July 2018

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Microtubules and Src homology 3 domains stimulate the dynamin GTPase via its C-terminal domain

5 July 2018

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Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

5 July 2018

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New function of the proline rich domain in dynamin-2 to negatively regulate its interaction with microtubules in mammalian cells

28 October 2018

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Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

28 October 2018

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Alteration of the C-terminal amino acid of tubulin specifically inhibits myogenic differentiation

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Disruption of Golgi structure and function in mammalian cells expressing a mutant dynamin.

28 October 2018

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A novel member of the dynamin family of GTP-binding proteins is expressed specifically in the testis

28 October 2018

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Identification of dynamin, a novel mechanochemical enzyme that mediates interactions between microtubules

28 October 2018

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A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice

28 October 2018

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Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

28 October 2018

1 reference

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Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease

28 October 2018

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12 December 2020

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

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12 December 2020

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

1 reference

12 December 2020

Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset

1 reference

12 December 2020

Role of dynamin in the formation of transport vesicles from the trans-Golgi network

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12 December 2020

The Pleckstrin Homology Domains of Dynamin Isoforms Require Oligomerization for High Affinity Phosphoinositide Binding

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0027498

Identifiers

DOI

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16 January 2020

0 references

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16 January 2020

PubMed publication ID

22096584

1 reference