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Items: 1 to 50 of 110

1.

Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.

Walkley SU, Abbeduto L, Batshaw ML, Bhattacharyya A, Bookheimer SY, Christian BT, Constantino JN, de Vellis J, Doherty DA, Nelson DL, Piven J, Poduri A, Pomeroy SL, Samaco RC, Zoghbi HY, Guralnick MJ; Intellectual and Developmental Disabilities Research Centers Directors Committee.

Ann Neurol. 2019 Sep;86(3):332-343. doi: 10.1002/ana.25531. Epub 2019 Jul 27. Review.

PMID:
31206741
2.

2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease.

Davidson J, Molitor E, Moores S, Gale SE, Subramanian K, Jiang X, Sidhu R, Kell P, Zhang J, Fujiwara H, Davidson C, Helquist P, Melancon BJ, Grigalunas M, Liu G, Salahi F, Wiest O, Xu X, Porter FD, Pipalia NH, Cruz DL, Holson EB, Schaffer JE, Walkley SU, Maxfield FR, Ory DS.

Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Oct;1864(10):1545-1561. doi: 10.1016/j.bbalip.2019.04.011. Epub 2019 Apr 30.

PMID:
31051283
3.

Current concepts in the neuropathogenesis of mucolipidosis type IV.

Boudewyn LC, Walkley SU.

J Neurochem. 2019 Mar;148(5):669-689. doi: 10.1111/jnc.14462. Epub 2018 Aug 30. Review.

PMID:
29770442
4.

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.

Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.

Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.

5.

N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV.

Boudewyn LC, Sikora J, Kuchar L, Ledvinova J, Grishchuk Y, Wang SL, Dobrenis K, Walkley SU.

Neurobiol Dis. 2017 Sep;105:257-270. doi: 10.1016/j.nbd.2017.06.003. Epub 2017 Jun 10.

6.

Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities.

Sikora J, Dworski S, Jones EE, Kamani MA, Micsenyi MC, Sawada T, Le Faouder P, Bertrand-Michel J, Dupuy A, Dunn CK, Xuan ICY, Casas J, Fabrias G, Hampson DR, Levade T, Drake RR, Medin JA, Walkley SU.

Am J Pathol. 2017 Apr;187(4):864-883. doi: 10.1016/j.ajpath.2016.12.005.

7.

Cyclodextrin has conflicting actions on autophagy flux in vivo in brains of normal and Alzheimer model mice.

Yang DS, Stavrides P, Kumar A, Jiang Y, Mohan PS, Ohno M, Dobrenis K, Davidson CD, Saito M, Pawlik M, Huo C, Walkley SU, Nixon RA.

Hum Mol Genet. 2017 Mar 1;26(5):843-859. doi: 10.1093/hmg/ddx001.

8.

Niemann-Pick disease, type C and Roscoe Brady.

Patterson MC, Walkley SU.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):34-37. doi: 10.1016/j.ymgme.2016.11.008. Epub 2016 Nov 29. Review.

PMID:
27923544
9.

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger EA, Austin CP, Porter FD, Vite CH, Ory DS.

Orphanet J Rare Dis. 2016 Dec 1;11(1):161.

10.

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.

Davidson CD, Fishman YI, Puskás I, Szemán J, Sohajda T, McCauliff LA, Sikora J, Storch J, Vanier MT, Szente L, Walkley SU, Dobrenis K.

Ann Clin Transl Neurol. 2016 Apr 20;3(5):366-80. doi: 10.1002/acn3.306. eCollection 2016 May.

11.

X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.

Sikora J, Leddy J, Gulinello M, Walkley SU.

Dis Model Mech. 2016 Jan;9(1):13-23. doi: 10.1242/dmm.022780. Epub 2015 Oct 29.

12.

A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.

Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS.

J Neurosci. 2015 May 27;35(21):8091-106. doi: 10.1523/JNEUROSCI.4173-14.2015.

13.

Niemann-pick C1 is essential for ebolavirus replication and pathogenesis in vivo.

Herbert AS, Davidson C, Kuehne AI, Bakken R, Braigen SZ, Gunn KE, Whelan SP, Brummelkamp TR, Twenhafel NA, Chandran K, Walkley SU, Dye JM.

MBio. 2015 May 26;6(3):e00565-15. doi: 10.1128/mBio.00565-15.

14.

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.

Vite CH, Bagel JH, Swain GP, Prociuk M, Sikora TU, Stein VM, O'Donnell P, Ruane T, Ward S, Crooks A, Li S, Mauldin E, Stellar S, De Meulder M, Kao ML, Ory DS, Davidson C, Vanier MT, Walkley SU.

Sci Transl Med. 2015 Feb 25;7(276):276ra26. doi: 10.1126/scitranslmed.3010101.

15.

Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).

Kowalewski B, Heimann P, Ortkras T, Lüllmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M.

Hum Mol Genet. 2015 Apr 1;24(7):1856-68. doi: 10.1093/hmg/ddu603. Epub 2014 Dec 1.

16.

Defective macroautophagic turnover of brain lipids in the TgCRND8 Alzheimer mouse model: prevention by correcting lysosomal proteolytic deficits.

Yang DS, Stavrides P, Saito M, Kumar A, Rodriguez-Navarro JA, Pawlik M, Huo C, Walkley SU, Saito M, Cuervo AM, Nixon RA.

Brain. 2014 Dec;137(Pt 12):3300-18. doi: 10.1093/brain/awu278. Epub 2014 Sep 29.

17.

Atypical multisensory integration in Niemann-Pick type C disease - towards potential biomarkers.

Andrade GN, Molholm S, Butler JS, Brandwein AB, Walkley SU, Foxe JJ.

Orphanet J Rare Dis. 2014 Sep 20;9:149. doi: 10.1186/s13023-014-0149-x.

18.

Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease.

Ottinger EA, Kao ML, Carrillo-Carrasco N, Yanjanin N, Shankar RK, Janssen M, Brewster M, Scott I, Xu X, Cradock J, Terse P, Dehdashti SJ, Marugan J, Zheng W, Portilla L, Hubbs A, Pavan WJ, Heiss J, Vite CH, Walkley SU, Ory DS, Silber SA, Porter FD, Austin CP, McKew JC.

Curr Top Med Chem. 2014;14(3):330-9. Review.

19.

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.

Fan M, Sidhu R, Fujiwara H, Tortelli B, Zhang J, Davidson C, Walkley SU, Bagel JH, Vite C, Yanjanin NM, Porter FD, Schaffer JE, Ory DS.

J Lipid Res. 2013 Oct;54(10):2800-14. doi: 10.1194/jlr.M040618. Epub 2013 Jul 23.

20.

Lysosomal membrane permeability stimulates protein aggregate formation in neurons of a lysosomal disease.

Micsenyi MC, Sikora J, Stephney G, Dobrenis K, Walkley SU.

J Neurosci. 2013 Jun 26;33(26):10815-27. doi: 10.1523/JNEUROSCI.0987-13.2013.

21.

Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeability.

Pontikis CC, Davidson CD, Walkley SU, Platt FM, Begley DJ.

J Inherit Metab Dis. 2013 May;36(3):491-8. doi: 10.1007/s10545-012-9583-x. Epub 2013 Feb 15.

22.

δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.

Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W.

J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. Erratum in: J Biol Chem. 2013 Jan 4;288(1):296. Finkes, Sally [corrected to Firnkes, Sally].

23.

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.

Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert AK, Pohl S, Lübke T, Michalski JC, Käkelä R, Walkley SU, Braulke T.

Brain. 2012 Sep;135(Pt 9):2661-75. doi: 10.1093/brain/aws209.

24.

Autophagy in lysosomal storage disorders.

Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A.

Autophagy. 2012 May 1;8(5):719-30. doi: 10.4161/auto.19469. Epub 2012 May 1. Review.

25.

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Cluzeau CV, Watkins-Chow DE, Fu R, Borate B, Yanjanin N, Dail MK, Davidson CD, Walkley SU, Ory DS, Wassif CA, Pavan WJ, Porter FD.

Hum Mol Genet. 2012 Aug 15;21(16):3632-46. doi: 10.1093/hmg/dds193. Epub 2012 May 22.

26.

Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

Stein VM, Crooks A, Ding W, Prociuk M, O'Donnell P, Bryan C, Sikora T, Dingemanse J, Vanier MT, Walkley SU, Vite CH.

J Neuropathol Exp Neurol. 2012 May;71(5):434-48. doi: 10.1097/NEN.0b013e31825414a6.

27.

Intrathecal recombinant human 4-sulfatase reduces accumulation of glycosaminoglycans in dura of mucopolysaccharidosis VI cats.

Auclair D, Finnie J, Walkley SU, White J, Nielsen T, Fuller M, Cheng A, O'Neill CA, Hopwood JJ.

Pediatr Res. 2012 Jan;71(1):39-45. doi: 10.1038/pr.2011.13.

PMID:
22289849
28.

X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.

Strømme P, Dobrenis K, Sillitoe RV, Gulinello M, Ali NF, Davidson C, Micsenyi MC, Stephney G, Ellevog L, Klungland A, Walkley SU.

Brain. 2011 Nov;134(Pt 11):3369-83. doi: 10.1093/brain/awr250. Epub 2011 Sep 29.

29.

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

Zhou S, Davidson C, McGlynn R, Stephney G, Dobrenis K, Vanier MT, Walkley SU.

Am J Pathol. 2011 Aug;179(2):890-902. doi: 10.1016/j.ajpath.2011.04.017. Epub 2011 Jun 2.

30.

Altered vitamin E status in Niemann-Pick type C disease.

Ulatowski L, Parker R, Davidson C, Yanjanin N, Kelley TJ, Corey D, Atkinson J, Porter F, Arai H, Walkley SU, Manor D.

J Lipid Res. 2011 Jul;52(7):1400-10. doi: 10.1194/jlr.M015560. Epub 2011 May 5.

31.

Biodistribution and pharmacodynamics of recombinant human alpha-L-iduronidase (rhIDU) in mucopolysaccharidosis type I-affected cats following multiple intrathecal administrations.

Vite CH, Wang P, Patel RT, Walton RM, Walkley SU, Sellers RS, Ellinwood NM, Cheng AS, White JT, O'Neill CA, Haskins M.

Mol Genet Metab. 2011 Jul;103(3):268-74. doi: 10.1016/j.ymgme.2011.03.011. Epub 2011 Mar 21.

32.

Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis.

Damme M, Stroobants S, Walkley SU, Lüllmann-Rauch R, D'Hooge R, Fogh J, Saftig P, Lübke T, Blanz J.

J Neuropathol Exp Neurol. 2011 Jan;70(1):83-94. doi: 10.1097/NEN.0b013e31820428fa.

33.

Lysosomal compromise and brain dysfunction: examining the role of neuroaxonal dystrophy.

Walkley SU, Sikora J, Micsenyi M, Davidson C, Dobrenis K.

Biochem Soc Trans. 2010 Dec;38(6):1436-41. doi: 10.1042/BST0381436.

34.

Macroautophagy is defective in mucolipin-1-deficient mouse neurons.

Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA.

Neurobiol Dis. 2010 Nov;40(2):370-7. doi: 10.1016/j.nbd.2010.06.010. Epub 2010 Jun 28.

35.

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.

Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, Ory DS, Vanier MT, Walkley SU.

PLoS One. 2009 Sep 11;4(9):e6951. doi: 10.1371/journal.pone.0006951.

36.

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

Micsenyi MC, Dobrenis K, Stephney G, Pickel J, Vanier MT, Slaugenhaupt SA, Walkley SU.

J Neuropathol Exp Neurol. 2009 Feb;68(2):125-35. doi: 10.1097/NEN.0b013e3181942cf0.

37.

Pathogenic cascades in lysosomal disease-Why so complex?

Walkley SU.

J Inherit Metab Dis. 2009 Apr;32(2):181-9. doi: 10.1007/s10545-008-1040-5. Epub 2009 Jan 7. Review.

38.

Secondary lipid accumulation in lysosomal disease.

Walkley SU, Vanier MT.

Biochim Biophys Acta. 2009 Apr;1793(4):726-36. doi: 10.1016/j.bbamcr.2008.11.014. Epub 2008 Dec 9. Review.

39.

Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.

Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR.

Mol Genet Metab. 2009 Feb;96(2):S3-5. doi: 10.1016/j.ymgme.2008.11.162. Epub 2008 Dec 10. No abstract available.

PMID:
19083251
40.

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease.

Kaptzan T, West SA, Holicky EL, Wheatley CL, Marks DL, Wang T, Peake KB, Vance J, Walkley SU, Pagano RE.

Am J Pathol. 2009 Jan;174(1):14-20. doi: 10.2353/ajpath.2009.080660. Epub 2008 Dec 4.

41.

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis.

Sleat DE, El-Banna M, Sohar I, Kim KH, Dobrenis K, Walkley SU, Lobel P.

Mol Genet Metab. 2008 Jun;94(2):222-33. doi: 10.1016/j.ymgme.2008.01.014. Epub 2008 Mar 17.

42.

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.

Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA.

Am J Hum Genet. 2007 Nov;81(5):1070-83. Epub 2007 Oct 2.

43.

Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis.

Crawley AC, Walkley SU.

J Neuropathol Exp Neurol. 2007 Aug;66(8):687-97.

PMID:
17882013
44.

Pathology of mucopolysaccharidosis IIIA in Huntaway dogs.

Jolly RD, Johnstone AC, Norman EJ, Hopwood JJ, Walkley SU.

Vet Pathol. 2007 Sep;44(5):569-78.

PMID:
17846229
45.

Bone marrow transplantation for feline mucopolysaccharidosis I.

Ellinwood NM, Colle MA, Weil MA, Casal ML, Vite CH, Wiemelt S, Hasson CW, O'Malley TM, He X, Prociuk U, Verot L, Melniczek JR, Lannon A, Aguirre GD, Knox VW, Evans SM, Vanier MT, Schuchman EH, Walkley SU, Haskins ME.

Mol Genet Metab. 2007 Jul;91(3):239-50. Epub 2007 May 7.

46.

Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome.

Walkley SU.

Acta Paediatr. 2007 Apr;96(455):26-32. Review.

PMID:
17391436
47.

Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease.

Langmade SJ, Gale SE, Frolov A, Mohri I, Suzuki K, Mellon SH, Walkley SU, Covey DF, Schaffer JE, Ory DS.

Proc Natl Acad Sci U S A. 2006 Sep 12;103(37):13807-12. Epub 2006 Aug 29.

48.

Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease.

Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H.

Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44.

PMID:
16150124
49.

Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage.

Narita K, Choudhury A, Dobrenis K, Sharma DK, Holicky EL, Marks DL, Walkley SU, Pagano RE.

FASEB J. 2005 Sep;19(11):1558-60. Epub 2005 Jun 22.

PMID:
15972801
50.

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