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Items: 1 to 20 of 76

1.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.

Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug. No abstract available.

2.

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V.

Brain. 2008 May;131(Pt 5):1217-27. doi: 10.1093/brain/awn029. Epub 2008 Mar 5.

PMID:
18325928
3.

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM.

Neurology. 2008 Nov 18;71(21):1660-8. doi: 10.1212/01.wnl.0000319696.14225.67. Epub 2008 Oct 1.

PMID:
18832141
4.

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R, Palmio J, Brewer J, Lek M, Needham M, Evilä A, Hackman P, Jonson PH, Penttilä S, Vihola A, Huovinen S, Lindfors M, Davis RL, Waddell L, Kaur S, Yiannikas C, North K, Clarke N, MacArthur DG, Sue CM, Udd B.

Neurology. 2016 Jan 26;86(4):391-8. doi: 10.1212/WNL.0000000000002324. Epub 2015 Dec 30. Erratum in: Neurology. 2016 Mar 15;86(11):1077.

5.

Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.

Geuens T, De Winter V, Rajan N, Achsel T, Mateiu L, Almeida-Souza L, Asselbergh B, Bouhy D, Auer-Grumbach M, Bagni C, Timmerman V.

Acta Neuropathol Commun. 2017 Jan 11;5(1):5. doi: 10.1186/s40478-016-0407-3.

6.

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Rossor AM, Morrow JM, Polke JM, Murphy SM, Houlden H; INC-RDCRC, Laura M, Manji H, Blake J, Reilly MM.

Neuromuscul Disord. 2017 Jan;27(1):50-56. doi: 10.1016/j.nmd.2016.10.001. Epub 2016 Oct 8.

7.

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.

Ylikallio E, Konovalova S, Dhungana Y, Hilander T, Junna N, Partanen JV, Toppila JP, Auranen M, Tyynismaa H.

BBA Clin. 2015 Mar 11;3:233-42. doi: 10.1016/j.bbacli.2015.03.002. eCollection 2015 Jun.

8.

Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice.

Srivastava AK, Renusch SR, Naiman NE, Gu S, Sneh A, Arnold WD, Sahenk Z, Kolb SJ.

Neurobiol Dis. 2012 Aug;47(2):163-73. doi: 10.1016/j.nbd.2012.03.035. Epub 2012 Apr 11.

9.

Characterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.

Bouhy D, Geuens T, De Winter V, Almeida-Souza L, Katona I, Weis J, Hochepied T, Goossens S, Haigh JJ, Janssens S, Timmerman V.

J Neuromuscul Dis. 2016 May 27;3(2):183-200.

PMID:
27854215
10.

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene.

Oberstadt M, Mitter D, Classen J, Baum P.

J Peripher Nerv Syst. 2016 Jun;21(2):111-113. doi: 10.1111/jns.12165.

PMID:
26887567
11.

Increased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathy.

Almeida-Souza L, Goethals S, de Winter V, Dierick I, Gallardo R, Van Durme J, Irobi J, Gettemans J, Rousseau F, Schymkowitz J, Timmerman V, Janssens S.

J Biol Chem. 2010 Apr 23;285(17):12778-86. doi: 10.1074/jbc.M109.082644. Epub 2010 Feb 23.

12.

Charcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments.

Holmgren A, Bouhy D, De Winter V, Asselbergh B, Timmermans JP, Irobi J, Timmerman V.

Acta Neuropathol. 2013 Jul;126(1):93-108. doi: 10.1007/s00401-013-1133-6. Epub 2013 Jun 1.

13.

Structure and properties of G84R and L99M mutants of human small heat shock protein HspB1 correlating with motor neuropathy.

Nefedova VV, Sudnitsyna MV, Strelkov SV, Gusev NB.

Arch Biochem Biophys. 2013 Oct 1;538(1):16-24. doi: 10.1016/j.abb.2013.07.028. Epub 2013 Aug 12.

PMID:
23948568
14.

HDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation.

Kim JY, Woo SY, Hong YB, Choi H, Kim J, Choi H, Mook-Jung I, Ha N, Kyung J, Koo SK, Jung SC, Choi BO.

Stem Cells Int. 2016;2016:9475981. doi: 10.1155/2016/9475981. Epub 2016 Dec 26.

15.

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.

Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V.

Nat Genet. 2004 Jun;36(6):602-6. Epub 2004 May 2.

PMID:
15122254
16.

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).

James PA, Rankin J, Talbot K.

J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):461-3. doi: 10.1136/jnnp.2007.125179.

PMID:
18344398
17.

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.

Capponi S, Geroldi A, Fossa P, Grandis M, Ciotti P, Gulli R, Schenone A, Mandich P, Bellone E.

J Peripher Nerv Syst. 2011 Dec;16(4):287-94. doi: 10.1111/j.1529-8027.2011.00361.x.

PMID:
22176143
18.

Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M.

J Neurol Sci. 2007 Dec 15;263(1-2):100-6. Epub 2007 Jul 30.

19.

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.

D'Arcy C, Kanellakis V, Forbes R, Wilding B, McGrath M, Howell K, Ryan M, McLean C.

J Child Neurol. 2015 Aug;30(9):1211-7. doi: 10.1177/0883073814549807. Epub 2014 Sep 22.

PMID:
25246303
20.

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

Ackerley S, James PA, Kalli A, French S, Davies KE, Talbot K.

Hum Mol Genet. 2006 Jan 15;15(2):347-54. Epub 2005 Dec 20.

PMID:
16368711

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