(Q34764035)

4 August 2017

title

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy (English)

1 reference

4 August 2017

0 references

Alessandra Bolino

15

0 references

Guy M. Lenk

object named as

Guy M Lenk

11

0 references

Stefano C. Previtali

object named as

Stefano Carlo Previtali

3

0 references

Lawrence Wrabetz

12

object named as

Lawrence Wrabetz

1 reference

4 August 2017

1

Ilaria Vaccari

1 reference

4 August 2017

14

Miriam H Meisler

1 reference

4 August 2017

9

Ubaldo Del Carro

1 reference

4 August 2017

6

Roberta Noseda

1 reference

4 August 2017

5

Valeria Alberizzi

1 reference

4 August 2017

Antonietta Carbone

2

1 reference

4 August 2017

Yevgeniya A Mironova

4

1 reference

4 August 2017

Cristina Rivellini

7

1 reference

4 August 2017

Francesca Bianchi

8

1 reference

4 August 2017

Maurizio D'Antonio

10

1 reference

4 August 2017

Roman J Giger

13

1 reference

4 August 2017

language of work or name

1 reference

3 September 2014

1 reference

4 August 2017

published in

Human Molecular Genetics

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4 August 2017

volume

24

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4 August 2017

issue

2

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4 August 2017

page(s)

383-396

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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

7 July 2018

1 reference

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Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Inositol lipids: from an archaeal origin to phosphatidylinositol 3,5-bisphosphate faults in human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Aberrant Schwann cell lipid metabolism linked to mitochondrial deficits leads to axon degeneration and neuropathy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Integration of autophagy, proteasomal degradation, unfolded protein response and apoptosis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Charcot-Marie-Tooth disease and intracellular traffic

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Phosphatidylinositol 3,5-bisphosphate and Fab1p/PIKfyve underPPIn endo-lysosome function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Progeny of Olig2-expressing progenitors in the gray and white matter of the adult mouse cerebral cortex.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Wrapping it up: the cell biology of myelination

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Loss of glial fibrillary acidic protein (GFAP) impairs Schwann cell proliferation and delays nerve regeneration after damage

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Neuron to glia signaling triggers myelin membrane exocytosis from endosomal storage sites

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Phosphatidylinositol 3,5-bisphosphate: metabolism and cellular functions

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Neuregulin-1 type III determines the ensheathment fate of axons

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Cholesterol regulates the endoplasmic reticulum exit of the major membrane protein P0 required for peripheral myelin compaction.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Expression of laminin receptors in schwann cell differentiation: evidence for distinct roles.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

P0-Cre transgenic mice for inactivation of adhesion molecules in Schwann cells

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

A novel P0 glycoprotein transgene activates expression of lacZ in myelin-forming Schwann cells

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4275070

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy

26 October 2018

1 reference

12 December 2020

Novel FIG4 mutations in Yunis–Varon syndrome

1 reference

12 December 2020

Lysosomal exocytosis in Schwann cells contributes to axon remyelination

1 reference

12 December 2020

Sonic hedgehog--regulated oligodendrocyte lineage genes encoding bHLH proteins in the mammalian central nervous system

1 reference

12 December 2020

Myelin biogenesis: sorting out protein trafficking

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDU451

1 reference

4 August 2017

1 reference

4 August 2017

1 reference