(Q41927557)

14 October 2017

title

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients (English)

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14 October 2017

6

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14 October 2017

Shimon Edvardson

1

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14 October 2017

Frank Gerhard

2

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14 October 2017

Chaim Jalas

3

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14 October 2017

Jens Lachmann

4

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14 October 2017

Dafna Golan

5

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14 October 2017

Avraham Shaag

7

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14 October 2017

Christian Ungermann

8

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14 October 2017

Orly Elpeleg

9

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14 October 2017

language of work or name

English

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publication date

25 August 2015

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Journal of Medical Genetics

14 October 2017

published in

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14 October 2017

volume

52

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14 October 2017

issue

11

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14 October 2017

page(s)

749-753

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Regulation of AMPA receptor trafficking and synaptic plasticity.

14 October 2017

cites work

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Identification of the switch in early-to-late endosome transition

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

The Msb3/Gyp3 GAP controls the activity of the Rab GTPases Vps21 and Ypt7 at endosomes and vacuoles

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Aspergillus RabB Rab5 integrates acquisition of degradative identity with the long distance movement of early endosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Endosomal maturation by Rab conversion in Aspergillus nidulans is coupled to dynein-mediated basipetal movement

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Molecular architecture of the multisubunit homotypic fusion and vacuole protein sorting (HOPS) tethering complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Defined subunit arrangement and rab interactions are required for functionality of the HOPS tethering complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

The CORVET tethering complex interacts with the yeast Rab5 homolog Vps21 and is involved in endo-lysosomal biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

A Ypt/Rab effector complex containing the Sec1 homolog Vps33p is required for homotypic vacuole fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

New component of the vacuolar class C-Vps complex couples nucleotide exchange on the Ypt7 GTPase to SNARE-dependent docking and fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

The Vps39-like TRAP1 is an effector of Rab5 and likely the missing Vps3 subunit of human CORVET

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Invited article: an MRI-based approach to the diagnosis of white matter disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

A new vital stain for visualizing vacuolar membrane dynamics and endocytosis in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Fiji: an open-source platform for biological-image analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

CORVET and HOPS tethering complexes - coordinators of endosome and lysosome fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Structural identification of the Vps18 β-propeller reveals a critical role in the HOPS complex stability and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Physical and genetic associations of the Irc20 ubiquitin ligase with Cdc48 and SUMO.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

The loss of vacuolar protein sorting 11 (vps11) causes retinal pathogenesis in a vertebrate model of syndromic albinism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

A novel RING finger protein complex essential for a late step in protein transport to the yeast vacuole

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Subunit organization and Rab interactions of Vps-C protein complexes that control endolysosomal membrane traffic

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Charcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Rab7 mutants associated with Charcot-Marie-Tooth disease cause delayed growth factor receptor transport and altered endosomal and nuclear signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2015-103239

10.1136/JMEDGENET-2015-103239

21 January 2018

Identifiers

DOI

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14 October 2017

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