(Q36891484)

16 August 2017

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia (English)

1 reference

hereditary spastic paraplegia

16 August 2017

1 reference

based on heuristic

inferred from title

author

Alexandre Dionne-Laporte

11

Alexandre Dionne-Laporte

0 references

Guy A. Rouleau

26

Guy A Rouleau

0 references

Ahmed Bouhouche

Ahmed Bouhouche

15

0 references

Ziv Gan-Or

Ziv Gan-Or

1

0 references

Patrick A Dion

24

Patrick A Dion

1 reference

16 August 2017

20

Nicolas Dupré

1 reference

16 August 2017

10

Dan Spiegelman

1 reference

16 August 2017

8

Sandra B Laurent

1 reference

16 August 2017

25

Pierre Drapeau

1 reference

16 August 2017

2

Naima Bouslam

1 reference

16 August 2017

17

Mohamed Yahyaoui

1 reference

16 August 2017

12

Anna Szuto

1 reference

16 August 2017

9

Daniel Rochefort

1 reference

16 August 2017

19

Grace Yoon

1 reference

16 August 2017

18

Reda Ouazzani

1 reference

16 August 2017

3

Nazha Birouk

1 reference

16 August 2017

4

Alexandra Lissouba

1 reference

16 August 2017

5

Daniel B Chambers

1 reference

16 August 2017

6

Julie Vérièpe

1 reference

16 August 2017

7

Alaura Androschuk

1 reference

16 August 2017

13

Meijiang Liao

1 reference

16 August 2017

14

Denise A Figlewicz

1 reference

16 August 2017

21

Oksana Suchowersky

1 reference

16 August 2017

22

Francois V Bolduc

1 reference

Bouchra Ouled Amar Bencheikh

16 August 2017

27

Bouchra Ouled Amar Bencheikh

1 reference

16 August 2017

Ali Benomar

16

1 reference

16 August 2017

J Alex Parker

23

1 reference

16 August 2017

language of work or name

English

0 references

publication date

1 May 2016

1 reference

American Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

98

1 reference

16 August 2017

1038-1046

1 reference

16 August 2017

5

1 reference

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Molecular aspects of hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Distinct roles for μ-calpain and m-calpain in synaptic NMDAR-mediated neuroprotection and extrasynaptic NMDAR-mediated neurodegeneration.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Conditional disruption of calpain in the CNS alters dendrite morphology, impairs LTP, and promotes neuronal survival following injury

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

An integrated map of genetic variation from 1,092 human genomes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Cellular pathways of hereditary spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

A method and server for predicting damaging missense mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Nestin is essential for zebrafish brain and eye development through control of progenitor cell apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Detection of nonneutral substitution rates on mammalian phylogenies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Fast and accurate short read alignment with Burrows-Wheeler transform

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Cyclin-dependent kinase 5 governs learning and synaptic plasticity via control of NMDAR degradation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

A Ca(2+) switch aligns the active site of calpain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Hereditary spastic paraparesis: a review of new developments.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Disruption of the oxysterol 7alpha-hydroxylase gene in mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Stages of embryonic development of the zebrafish

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Translational suppression of calpain blocks long-term potentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Calpain inhibitors block long-term potentiation.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

MutationTaster2: mutation prediction for the deep-sequencing age.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Brain-derived neurotrophic factor and epidermal growth factor activate neuronal m-calpain via mitogen-activated protein kinase-dependent phosphorylation

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Characterization and comparative expression of zebrafish calpain system genes during early development.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Analysis of leukemia inhibitory factor and leukemia inhibitory factor receptor in embryonic and adult zebrafish (Danio rerio).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Calpain inhibitors protect against axonal degeneration in a model of anti-ganglioside antibody-mediated motor nerve terminal injury.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Inhibition of calpains prevents neuronal and behavioral deficits in an MPTP mouse model of Parkinson's disease.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

Proteolysis of glutamate receptor-interacting protein by calpain in rat brain: implications for synaptic plasticity

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

The Biochemistry of Memory: A New and Specific Hypothesis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4863665

How calpain is activated by calcium

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27153400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27153400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.04.002

1 reference

16 August 2017

1 reference

16 August 2017

1 reference