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ELOVL5 mutations cause spinocerebellar ataxia 38
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scholarly article
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title
ELOVL5 mutations cause spinocerebellar ataxia 38
(English)
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main subject
cerebellum
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ELOVL fatty acid elongase 5
1 reference
stated in
GOA release 2020-03-11
spinocerebellar ataxia
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based on heuristic
inferred from title
author
Alexis Brice
series ordinal
29
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Paola Giunti
series ordinal
26
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Cecilia Mancini
object named as
Cecilia Mancini
series ordinal
8
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Nicola Lo Buono
object named as
Nicola Lo Buono
series ordinal
6
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Eriola Hoxha
object named as
Eriola Hoxha
series ordinal
12
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Elisa Giorgio
object named as
Elisa Giorgio
series ordinal
3
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Filippo Tempia
object named as
Filippo Tempia
series ordinal
30
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Jean Imbert
object named as
Jean Imbert
series ordinal
23
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Ada Funaro
object named as
Ada Funaro
series ordinal
31
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Nico Mitro
object named as
Nico Mitro
series ordinal
11
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Domenico Coviello
object named as
Domenico A Coviello
series ordinal
14
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Alfredo Brusco
object named as
Alfredo Brusco
series ordinal
35
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Giovanni Stevanin
object named as
Giovanni Stevanin
series ordinal
34
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Barbara Borroni
series ordinal
2
object named as
Barbara Borroni
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Alexandra Durr
series ordinal
28
object named as
Alexandra Durr
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Jean-François Deleuze
series ordinal
22
object named as
Jean-François Deleuze
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Christelle Tesson
series ordinal
16
object named as
Christelle Tesson
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Eleonora Di Gregorio
series ordinal
1
object named as
Eleonora Di Gregorio
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Daniela Lacerenza
series ordinal
4
object named as
Daniela Lacerenza
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Alessandro Calcia
series ordinal
10
object named as
Alessandro Calcia
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Philippe Couarch
series ordinal
18
object named as
Philippe Couarch
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Laura Orsi
series ordinal
19
object named as
Laura Orsi
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Eleonora Duregon
series ordinal
20
object named as
Eleonora Duregon
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author name string
Marta Ferrero
series ordinal
5
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Neftj Ragusa
series ordinal
7
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Marion Gaussen
series ordinal
9
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Isabella Mura
series ordinal
13
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Young-Ah Moon
series ordinal
15
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Giovanna Vaula
series ordinal
17
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Mauro Giulio Papotti
series ordinal
21
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Chiara Costanzi
series ordinal
24
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Alessandro Padovani
series ordinal
25
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Marcel Maillet-Vioud
series ordinal
27
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Loredana Boccone
series ordinal
32
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Donatella Caruso
series ordinal
33
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language of work or name
English
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publication date
7 August 2014
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published in
American Journal of Human Genetics
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volume
95
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issue
2
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page(s)
209-17
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on focus list of Wikimedia project
ScienceSource
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cites work
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
19 March 2017
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
19 March 2017
Exome sequencing identifies the cause of a mendelian disorder
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
19 March 2017
Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
19 March 2017
Identification of a mammalian long chain fatty acyl elongase regulated by sterol regulatory element-binding proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
19 March 2017
Disturbance of endoplasmic reticulum proteostasis in neurodegenerative diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Targeting the unfolded protein response in neurodegeneration: A new approach to therapy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Human diseases associated with form and function of the Golgi complex
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Deciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Role of ELOVL4 and very long-chain polyunsaturated fatty acids in mouse models of Stargardt type 3 retinal degeneration
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Very long-chain fatty acids: elongation, physiology and related disorders
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Elongase reactions as control points in long-chain polyunsaturated fatty acid synthesis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Diabetes-induced myelin abnormalities are associated with an altered lipid pattern: protective effects of LXR activation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Movement disorders in spinocerebellar ataxias.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Emerging new roles of GM130, a cis-Golgi matrix protein, in higher order cell functions.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Quality control in the secretory pathway: retention of a misfolded viral membrane glycoprotein involves cycling between the ER, intermediate compartment, and Golgi apparatus
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Protein oligomerization in the endoplasmic reticulum
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
27 September 2017
Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
30 May 2018
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
29 November 2018
Molecular genetic advances in neurological disease: special review issue
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
29 November 2018
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4129408
retrieved
29 November 2018
Cerebellar disorders--at the crossroad of molecular pathways and diagnosis
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25065913
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Molecular epidemiology of spinocerebellar ataxia type 6
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/25065913
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1016/J.AJHG.2014.07.001
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2042852
OpenCitations bibliographic resource ID
2042852
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2042852
PMC publication ID
4129408
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2042852
PubMed publication ID
25065913
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2042852
ResearchGate publication ID
264543139
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