about
Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerveIdentification of erythrocyte p55/MPP1 as a binding partner of NF2 tumor suppressor protein/Merlin.A common molecular basis for three inherited kidney stone diseasesMutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucomaKif13b Regulates PNS and CNS Myelination through the Dlg1 ScaffoldHost response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding geneGenetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathiesDlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelinationCombined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy.Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22.Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.Urokinase plasminogen receptor and the fibrinolytic complex play a role in nerve repair after nerve crush in mice, and in human neuropathies.Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis.PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system.Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination.DDIT4/REDD1/RTP801 is a novel negative regulator of Schwann cell myelination.Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literatureLoss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.Foot pad skin biopsy in mouse models of hereditary neuropathy.Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.Heat shock protein 27 R127W mutation: evidence of a continuum between axonal Charcot-Marie-Tooth and distal hereditary motor neuropathy.Meeting report: 2013 Peripheral Nerve Society Biennial Meeting, Saint-Malo, France, June 29-July 3, 2013.A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'.118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy).The extracellular matrix affects axonal regeneration in peripheral neuropathies.Vimentin regulates peripheral nerve myelination.Isolation and comparative mapping of a human chromosome 20-specific alpha-satellite DNA clone.A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.Myotubularins and associated neuromuscular diseasesAnalyzing Histopathological Features of Rare Charcot-Marie-Tooth Neuropathies to Unravel Their PathogenesisExclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopmentLocalization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharingFrequency of RET mutations in long- and short-segment Hirschsprung diseaseA multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Expanding the spectrum of genes responsible for hereditary motor neuropathiesDRG Neuron/Schwann Cells Myelinating Cocultures
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
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name
Alessandra Bolino
@ast
Alessandra Bolino
@en
Alessandra Bolino
@es
Alessandra Bolino
@nl
type
label
Alessandra Bolino
@ast
Alessandra Bolino
@en
Alessandra Bolino
@es
Alessandra Bolino
@nl
prefLabel
Alessandra Bolino
@ast
Alessandra Bolino
@en
Alessandra Bolino
@es
Alessandra Bolino
@nl
P106
P1153
6701539642
P21
P31
P496
0000-0002-8980-4878