(Q24310003)

central nervous system neuron development

GOA release 2020-03-11

1 reference

hereditary spastic paraplegia

GOA release 2020-03-11

1 reference

21

0 references

Peter De Jonghe

19

0 references

Tine Deconinck

9

0 references

Ludger Schöls

15

0 references

Rebecca Schüle

2

0 references

Stephan Züchner

18

0 references

Chokri Mhiri

16

Chokri Mhiri

0 references

José L. Loureiro

José L Loureiro

6

0 references

Giovanni Stevanin

Giovanni Stevanin

22

0 references

Alexandra Durr

13

Alexandra Durr

0 references

Emeline Mundwiller

8

Emeline Mundwiller

0 references

Amir Boukhris

5

Amir Boukhris

0 references

Andrés Caballero-Oteyza

12

Andrés Caballero Oteyza

0 references

Foudil Lamari

17

Foudil Lamari

0 references

Elodie Martin

1

Elodie Martin

0 references

Katrien Smets

3

Katrien Smets

0 references

Agnès Rastetter

4

Agnès Rastetter

0 references

Jean-Jacques Martin

14

Jean-Jacques Martin

0 references

Edor Kabashi

20

Edor Kabashi

0 references

author name string

Michael A Gonzalez

7

0 references

Marc Wessner

10

0 references

Ludmila Jornea

American Journal of Human Genetics

11

0 references

language of work or name

English

0 references

publication date

7 February 2013

0 references

published in

0 references

volume

92

0 references

issue

2

0 references

page(s)

238-44

0 references

cites work

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

The sensitivity of murine spermiogenesis to miglustat is a quantitative trait: a pharmacogenetic study

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Identification of the non-lysosomal glucosylceramidase as beta-glucosidase 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

A framework for variation discovery and genotyping using next-generation DNA sequencing data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Ceramide function in the brain: when a slight tilt is enough.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

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=3567271

Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Genetics of hereditary 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=3567271

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP 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=3567271

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

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=3567271

Mutation of beta-glucosidase 2 causes glycolipid storage disease and impaired male fertility

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Lipid-binding proteins in membrane digestion, antigen presentation, and antimicrobial defense

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Purification and characterization of a microsomal bile acid beta-glucosidase from human liver

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

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=3567271

Synaptotagmin I and II are present in distinct subsets of central synapses.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann-Pick C mice.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3567271

Beta-glucosidase activity towards a bile acid glucoside in human liver

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23332916

12 December 2020

inferred from PubMed ID database lookup

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23332916

12 December 2020

inferred from PubMed ID database lookup

Accumulation of Glucosylceramide in Murine Testis, Caused by Inhibition of β-Glucosidase 2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23332916

12 December 2020

inferred from PubMed ID database lookup

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2012.11.021

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2012.11.021

1 reference

1 reference

1 reference

PubMed publication ID

23332916

1 reference