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Items: 1 to 20 of 30

1.

Endoplasmic Reticulum Protein Quality Control Failure in Myelin Disorders.

Volpi VG, Touvier T, D'Antonio M.

Front Mol Neurosci. 2017 Jan 4;9:162. doi: 10.3389/fnmol.2016.00162. eCollection 2016. Review.

2.

New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.

Spratley SJ, Deane JE.

J Neurosci Res. 2016 Nov;94(11):1203-19. doi: 10.1002/jnr.23762. Review.

3.

Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations.

Maher KR, Yeager AM.

J Neurosci Res. 2016 Nov;94(11):1180-8. doi: 10.1002/jnr.23782. Review.

4.

A microglial hypothesis of globoid cell leukodystrophy pathology.

Nicaise AM, Bongarzone ER, Crocker SJ.

J Neurosci Res. 2016 Nov;94(11):1049-61. doi: 10.1002/jnr.23773. Review.

5.

Krabbe Disease in the Arab World.

Zayed H.

J Pediatr Genet. 2015 Mar;4(1):1-8. doi: 10.1055/s-0035-1554981. Review.

6.

Generation of a LacZ reporter transgenic mouse line for the stereological analysis of oligodendrocyte loss in galactosylceramidase deficiency.

Zhu H, Ornaghi F, Belin S, Givogri MI, Wrabetz L, Bongarzone ER.

J Neurosci Res. 2016 Dec;94(12):1520-1530. doi: 10.1002/jnr.23839. Epub 2016 Jul 18.

PMID:
27426866
7.

Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.

Spratley SJ, Hill CH, Viuff AH, Edgar JR, Skjødt K, Deane JE.

Traffic. 2016 Aug;17(8):908-22. doi: 10.1111/tra.12404. Epub 2016 May 30.

8.

Inherited and acquired disorders of myelin: The underlying myelin pathology.

Duncan ID, Radcliff AB.

Exp Neurol. 2016 Sep;283(Pt B):452-75. doi: 10.1016/j.expneurol.2016.04.002. Epub 2016 Apr 9. Review.

PMID:
27068622
9.

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.

Zerkaoui M, Ratbi I, Castellotti B, Gellera C, Lyahyai J, Kriouile Y, Sefiani A.

BMC Pediatr. 2015 Nov 13;15:182. doi: 10.1186/s12887-015-0490-9.

10.

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.

Gupta A, Poe MD, Styner MA, Panigrahy A, Escolar ML.

Neuroimage Clin. 2014 Sep 26;7:792-8. doi: 10.1016/j.nicl.2014.09.014. eCollection 2015.

11.

Mechanism of neuromuscular dysfunction in Krabbe disease.

Cantuti-Castelvetri L, Maravilla E, Marshall M, Tamayo T, D'auria L, Monge J, Jeffries J, Sural-Fehr T, Lopez-Rosas A, Li G, Garcia K, van Breemen R, Vite C, Garcia J, Bongarzone ER.

J Neurosci. 2015 Jan 28;35(4):1606-16. doi: 10.1523/JNEUROSCI.2431-14.2015.

12.

Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions.

Claycomb KI, Winokur PN, Johnson KM, Nicaise AM, Giampetruzzi AW, Sacino AV, Snyder EY, Barbarese E, Bongarzone ER, Crocker SJ.

J Neuropathol Exp Neurol. 2014 Oct;73(10):964-74. doi: 10.1097/NEN.0000000000000117.

13.

Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy.

Lattanzi A, Salvagno C, Maderna C, Benedicenti F, Morena F, Kulik W, Naldini L, Montini E, Martino S, Gritti A.

Hum Mol Genet. 2014 Jun 15;23(12):3250-68. doi: 10.1093/hmg/ddu034. Epub 2014 Jan 23.

14.

Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy.

Belleri M, Ronca R, Coltrini D, Nico B, Ribatti D, Poliani PL, Giacomini A, Alessi P, Marchesini S, Santos MB, Bongarzone ER, Presta M.

Brain. 2013 Sep;136(Pt 9):2859-75. doi: 10.1093/brain/awt215.

15.

Multipotent stromal cells alleviate inflammation, neuropathology, and symptoms associated with globoid cell leukodystrophy in the twitcher mouse.

Scruggs BA, Zhang X, Bowles AC, Gold PA, Semon JA, Fisher-Perkins JM, Zhang S, Bonvillain RW, Myers L, Li SC, Kalueff AV, Bunnell BA.

Stem Cells. 2013 Aug;31(8):1523-34. doi: 10.1002/stem.1397.

16.

Characterization of adipose-derived stromal/stem cells from the Twitcher mouse model of Krabbe disease.

Zhang X, Semon JA, Zhang S, Strong AL, Scruggs BA, Gimble JM, Bunnell BA.

BMC Cell Biol. 2013 Apr 16;14:20. doi: 10.1186/1471-2121-14-20.

17.

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

Tanner AK, Chin EL, Duffner PK, Hegde M.

Orphanet J Rare Dis. 2012 Jun 15;7:38. doi: 10.1186/1750-1172-7-38.

18.

Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases.

Cantuti-Castelvetri L, Zhu H, Givogri MI, Chidavaenzi RL, Lopez-Rosas A, Bongarzone ER.

Neurobiol Dis. 2012 May;46(2):325-35. doi: 10.1016/j.nbd.2012.01.013. Epub 2012 Feb 4.

19.

Structure of saposin A lipoprotein discs.

Popovic K, Holyoake J, Pomès R, Privé GG.

Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):2908-12. doi: 10.1073/pnas.1115743109. Epub 2012 Feb 2.

20.

GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.

Liu Y, Gibson J, Wheeler J, Kwee LC, Santiago-Turla CM, Akafo SK, Lichter PR, Gaasterland DE, Moroi SE, Challa P, Herndon LW, Girkin CA, Budenz DL, Richards JE, Allingham RR, Hauser MA.

PLoS One. 2011;6(11):e27134. doi: 10.1371/journal.pone.0027134. Epub 2011 Nov 4. Erratum in: PLoS One. 2014;9(7):e103197.

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