Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. (Q33835343)

29 July 2017

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. (English)

1 reference

hereditary spastic paraplegia

29 July 2017

1 reference

2

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11 June 2020

Rajat Singh

3

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11 June 2020

Adeline Vanderver

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11 June 2020

author name string

Benoît Renvoisé

1

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11 June 2020

Sayuri Yonekawa

4

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11 June 2020

Edmond J FitzGibbon

5

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11 June 2020

Ami Mankodi

6

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11 June 2020

Alice Schindler

8

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11 June 2020

Camilo Toro

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11 June 2020

William A Gahl

10

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11 June 2020

Don J Mahuran

11

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11 June 2020

Craig Blackstone

12

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11 June 2020

Tyler Mark Pierson

13

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11 June 2020

publication date

1 June 2014

1 reference

Annals of clinical and translational neurology

29 July 2017

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11 June 2020

volume

1

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issue

6

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11 June 2020

page(s)

379-389

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describes a project that uses

11 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4078876/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

4 July 2018

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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

4 July 2018

1 reference

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Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

4 July 2018

1 reference

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Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia

4 July 2018

1 reference

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Neurotransmitter abnormalities and response to supplementation in SPG11.

4 July 2018

1 reference

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

4 July 2018

1 reference

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Cellular pathways of hereditary spastic paraplegia

4 July 2018

1 reference

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Deficiency of ATP13A2 leads to lysosomal dysfunction, α-synuclein accumulation, and neurotoxicity

4 July 2018

1 reference

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Lysosomal disorders associated with leukoencephalopathy

4 July 2018

1 reference

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The fifth adaptor protein complex

4 July 2018

1 reference

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A lysosomal lair for a pathogenic protein pair

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Hereditary spastic paraplegias: membrane traffic and the motor pathway

4 July 2018

1 reference

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A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

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

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

4 July 2018

1 reference

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

4 July 2018

1 reference

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The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

4 July 2018

1 reference

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Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4078876

Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin

4 July 2018

1 reference

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SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

4 July 2018

1 reference

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

21 January 2018

1 reference

Immunohistochemical localization of spatacsin in α-synucleinopathies

21 January 2018

1 reference

Forceps Minor Region Signal Abnormality “Ears of the Lynx”: An Early MRI Finding in Spastic Paraparesis with Thin Corpus Callosum and Mutations in the Spatacsin Gene(SPG11)on Chromosome 15

21 January 2018

1 reference

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

21 January 2018

1 reference

Atypical juvenile parkinsonism in a consanguineous SPG15 family

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24999486

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Encephaloneuropathy with lysosomal zebra bodies and GM2 ganglioside storage

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24999486

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ACN3.64

1 reference

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11 June 2020

1 reference

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11 June 2020

1 reference

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