(Q34407331)

2 August 2017

title

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). (English)

1 reference

2 August 2017

author

Esther Leshinsky-Silver

10

object named as

Esther Leshinsky-Silver

0 references

Tally Lerman-Sagie

3

object named as

Tally Lerman-Sagie

1 reference

2 August 2017

5

Dorit Lev

1 reference

2 August 2017

Miora Feinstein

1

1 reference

2 August 2017

Hagit Flusser

2

1 reference

2 August 2017

Bruria Ben-Zeev

4

1 reference

2 August 2017

Orly Agamy

6

1 reference

2 August 2017

Idan Cohen

7

1 reference

2 August 2017

Rotem Kadir

8

1 reference

2 August 2017

Sara Sivan

9

1 reference

2 August 2017

Barak Markus

11

1 reference

2 August 2017

Ohad S Birk

12

1 reference

2 August 2017

language of work or name

English

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publication date

27 February 2014

1 reference

Journal of Medical Genetics

2 August 2017

published in

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2 August 2017

volume

51

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2 August 2017

issue

5

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2 August 2017

page(s)

303-308

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Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

2 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy

21 January 2018

1 reference

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Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

ZNF750 is expressed in differentiated keratinocytes and regulates epidermal late differentiation genes

21 January 2018

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Effects of glucagon-like peptide 1 analogue on the early phase of revascularization of transplanted pancreatic islets in a subcutaneous site

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Vps52p, Vps53p, and Vps54p form a novel multisubunit complex required for protein sorting at the yeast late Golgi

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Vps51p mediates the association of the GARP (Vps52/53/54) complex with the late Golgi t-SNARE Tlg1p

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

An effector of Ypt6p binds the SNARE Tlg1p and mediates selective fusion of vesicles with late Golgi membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Dual roles of the mammalian GARP complex in tethering and SNARE complex assembly at the trans-golgi network

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Structure of a C-terminal fragment of its Vps53 subunit suggests similarity of Golgi-associated retrograde protein (GARP) complex to a family of tethering complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

The tetraspanin CD63/lamp3 cycles between endocytic and secretory compartments in human endothelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101823

10.1136/JMEDGENET-2013-101823

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference