Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology (Q39029111)

8 September 2017

Functional mutation analysis provides evidence for a role of REEP1 in lipid droplet biology (English)

1 reference

8 September 2017

Mohamed M Bekhite

3

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Christian Beetz

object named as

Christian Beetz

9

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Thomas Deufel

object named as

Thomas Deufel

7

0 references

Peter Hemmerich

5

object named as

Peter Hemmerich

1 reference

8 September 2017

6

Michael Kiehntopf

1 reference

8 September 2017

8

Christian A Hübner

1 reference

8 September 2017

Julia Falk

1

1 reference

PubMed ID

24478229

8 September 2017

Magdalena Rohde

2

1 reference

PubMed ID

24478229

8 September 2017

Sophie Neugebauer

4

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8 September 2017

5 March 2014

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8 September 2017

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8 September 2017

35

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8 September 2017

4

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8 September 2017

497-504

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Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

8 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

A new paradigm for membrane-organizing and -shaping scaffolds

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Packaging of fat: an evolving model of lipid droplet assembly and expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

ESEfinder: A web resource to identify exonic splicing enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Not just fat: the structure and function of the lipid droplet

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Amino acid difference formula to help explain protein evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Is fat so bad? Modulation of endoplasmic reticulum stress by lipid droplet formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

A conserved role for atlastin GTPases in regulating lipid droplet size

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

A simple method for displaying the hydropathic character of a protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Perilipins, ADRP, and other proteins that associate with intracellular neutral lipid droplets in animal cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Further assembly required: construction and dynamics of the endoplasmic reticulum network

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

The hereditary spastic paraplegias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Emerging themes of ER organization in the development and maintenance of axons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Rough sheets and smooth tubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

Factors underlying the variability of lipid droplet fluorescence in MA-10 Leydig tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22521

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22521

1 reference

8 September 2017

1 reference

PubMed ID

24478229