Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia (Q24317205)

endoplasmic reticulum tubular network organization

GOA release 2020-03-11

1 reference

hereditary spastic paraplegia

GOA release 2020-03-11

1 reference

21

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Guy A. Rouleau

19

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Alexandre Dionne-Laporte

15

Alexandre Dionne-Laporte

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Frédéric Darios

Frédéric Darios

23

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Giovanni Stevanin

Giovanni Stevanin

22

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Alexandra Durr

2

Alexandra Durr

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Julie Gauthier

7

Julie Gauthier

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Stephan Züchner

20

Stephan Zuchner

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José L. Loureiro

4

José L Loureiro

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Patrick A Dion

17

Patrick Dion

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Typhaine Esteves

1

Typhaine Esteves

0 references

Emeline Mundwiller

3

Emeline Mundwiller

0 references

Maxime Boutry

5

Maxime Boutry

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Khalid Hamid El Hachimi

8

Khalid H El-Hachimi

0 references

Christel Depienne

9

Christel Depienne

0 references

Marie-Paule Muriel

10

Marie-Paule Muriel

0 references

Rafael F Acosta Lebrigio

11

Rafael F Acosta Lebrigio

0 references

Anne Noreau

13

Anne Noreau

0 references

Fiorella Speziani

14

Fiorella Speziani

0 references

Jean-François Deleuze

16

Jean-François Deleuze

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author name string

Michael A Gonzalez

6

0 references

Marion Gaussen

12

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Paula Coutinho

American Journal of Human Genetics

18

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language of work or name

English

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publication date

6 February 2014

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published in

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volume

94

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issue

2

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page(s)

268-77

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cites work

REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

REEPs are membrane shaping adapter proteins that modulate specific g protein-coupled receptor trafficking by affecting ER cargo capacity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

REEP2 enhances sweet receptor function by recruitment to lipid rafts

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

19 March 2017

1 reference

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The reticulon and DP1/Yop1p proteins form immobile oligomers in the tubular endoplasmic reticulum

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

A class of membrane proteins shaping the tubular endoplasmic reticulum

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Hereditary spastic paraplegias: membrane traffic and the motor pathway

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Mechanisms determining the morphology of the peripheral ER

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Recent advances in the genetics of spastic paraplegias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Recent advances in hereditary spastic paraplegia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Classification of the hereditary ataxias and paraplegias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Sphingosine facilitates SNARE complex assembly and activates synaptic vesicle exocytosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Evidence of a third locus in X-linked recessive spastic paraplegia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3928657

Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24388663

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24388663