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Items: 1 to 50 of 62

1.

Lafora disease.

Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):38-62. Review.

2.

Fatal hepatic failure and pontine and extrapontine myelinolysis in XMEA.

Ackerley CA, Cooper MA, Munoz DG, Minassian BA.

Neurology. 2016 Sep 27;87(13):1417-9. doi: 10.1212/WNL.0000000000003155. Epub 2016 Aug 26. No abstract available.

3.

PTG protein depletion rescues malin-deficient Lafora disease in mouse.

Turnbull J, Epp JR, Goldsmith D, Zhao X, Pencea N, Wang P, Frankland PW, Ackerley CA, Minassian BA.

Ann Neurol. 2014 Mar;75(3):442-6. doi: 10.1002/ana.24104. Epub 2014 Mar 7.

PMID:
24419970
4.

Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance.

Turnbull J, Tiberia E, Pereira S, Zhao X, Pencea N, Wheeler AL, Yu WQ, Ivovic A, Naranian T, Israelian N, Draginov A, Piliguian M, Frankland PW, Wang P, Ackerley CA, Giacca A, Minassian BA.

J Biol Chem. 2013 Nov 29;288(48):34627-37. doi: 10.1074/jbc.M113.483198. Epub 2013 Oct 18.

5.

Inhibiting glycogen synthesis prevents Lafora disease in a mouse model.

Pederson BA, Turnbull J, Epp JR, Weaver SA, Zhao X, Pencea N, Roach PJ, Frankland PW, Ackerley CA, Minassian BA.

Ann Neurol. 2013 Aug;74(2):297-300. doi: 10.1002/ana.23899.

6.

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.

Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA.

Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12.

PMID:
23315026
7.

Early-onset Lafora body disease.

Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA.

Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205.

8.

Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.

Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA.

J Biol Chem. 2012 Jul 20;287(30):25650-9. doi: 10.1074/jbc.M111.331611. Epub 2012 Jun 5.

9.

Phosphorylation prevents polyglucosan transport in Lafora disease.

Girard JM, Stone SS, Lohi H, Blaszykowski C, Teixeira C, Turnbull J, Wang A, Draginov A, Wang P, Zhao XC, Ackerley CA, Frankland PW, Minassian BA.

Neurology. 2012 Jul 3;79(1):100-2. doi: 10.1212/WNL.0b013e31825dcdac. Epub 2012 May 23. No abstract available.

10.

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, Piliguian M, Roach PJ, Wang P, Ackerley CA, Minassian BA.

PLoS Genet. 2011 Apr;7(4):e1002037. doi: 10.1371/journal.pgen.1002037. Epub 2011 Apr 28.

11.

Lafora bodies in skeletal muscle are fiber type specific.

Turnbull J, Girard JM, Pencea N, Zhao X, Graham TE, Wang P, Ackerley CA, Minassian BA.

Neurology. 2011 May 10;76(19):1674-6. doi: 10.1212/WNL.0b013e318219faf6. Epub 2011 Mar 30. No abstract available.

12.

Glycogen hyperphosphorylation underlies lafora body formation.

Turnbull J, Wang P, Girard JM, Ruggieri A, Wang TJ, Draginov AG, Kameka AP, Pencea N, Zhao X, Ackerley CA, Minassian BA.

Ann Neurol. 2010 Dec;68(6):925-33. doi: 10.1002/ana.22156.

PMID:
21077101
13.

Clara cell secretory protein increases phagocytic and decreases oxidative activity of neutrophils.

Katavolos P, Ackerley CA, Clark ME, Bienzle D.

Vet Immunol Immunopathol. 2011 Jan;139(1):1-9. doi: 10.1016/j.vetimm.2010.07.021. Epub 2010 Aug 6.

PMID:
20728946
14.

Septins regulate developmental switching from microdomain to nanodomain coupling of Ca(2+) influx to neurotransmitter release at a central synapse.

Yang YM, Fedchyshyn MJ, Grande G, Aitoubah J, Tsang CW, Xie H, Ackerley CA, Trimble WS, Wang LY.

Neuron. 2010 Jul 15;67(1):100-15. doi: 10.1016/j.neuron.2010.06.003.

15.

Cystic fibrosis transmembrane conductance regulator in human muscle: Dysfunction causes abnormal metabolic recovery in exercise.

Lamhonwah AM, Bear CE, Huan LJ, Kim Chiaw P, Ackerley CA, Tein I.

Ann Neurol. 2010 Jun;67(6):802-8. doi: 10.1002/ana.21982.

PMID:
20517942
16.

22-year-old girl with status epilepticus and progressive neurological symptoms.

Striano P, Ackerley CA, Cervasio M, Girard JM, Turnbull J, Del Basso-De Caro ML, Striano S, Zara F, Minassian BA.

Brain Pathol. 2009 Oct;19(4):727-30. doi: 10.1111/j.1750-3639.2009.00308.x.

PMID:
19744044
17.

Mutation I810N in the alpha3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS.

Clapcote SJ, Duffy S, Xie G, Kirshenbaum G, Bechard AR, Rodacker Schack V, Petersen J, Sinai L, Saab BJ, Lerch JP, Minassian BA, Ackerley CA, Sled JG, Cortez MA, Henderson JT, Vilsen B, Roder JC.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14085-90. doi: 10.1073/pnas.0904817106. Epub 2009 Aug 3.

18.

VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.

Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA.

Cell. 2009 Apr 17;137(2):235-46. doi: 10.1016/j.cell.2009.01.054. Retraction in: Cell. 2010 Sep 17;142(6):984.

19.

Clara cell secretory protein is reduced in equine recurrent airway obstruction.

Katavolos P, Ackerley CA, Viel L, Clark ME, Wen X, Bienzle D.

Vet Pathol. 2009 Jul;46(4):604-13. doi: 10.1354/vp.08-VP-0255-B-FL. Epub 2009 Mar 9.

PMID:
19276063
20.

Peptidylarginine deiminase 2 (PAD2) overexpression in transgenic mice leads to myelin loss in the central nervous system.

Musse AA, Li Z, Ackerley CA, Bienzle D, Lei H, Poma R, Harauz G, Moscarello MA, Mastronardi FG.

Dis Model Mech. 2008 Nov-Dec;1(4-5):229-40. doi: 10.1242/dmm.000729. Epub 2008 Nov 6.

21.

Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.

Turnbull J, Kumar S, Ren ZP, Muralitharan S, Naranian T, Ackerley CA, Minassian BA.

J Child Neurol. 2008 Feb;23(2):240-2. doi: 10.1177/0883073807309245.

PMID:
18263761
22.

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-De Caro ML, Striano S, Minassian BA.

Nat Clin Pract Neurol. 2008 Feb;4(2):106-11. doi: 10.1038/ncpneuro0706.

PMID:
18256682
23.

Myelin localization of peptidylarginine deiminases 2 and 4: comparison of PAD2 and PAD4 activities.

Wood DD, Ackerley CA, Brand Bv, Zhang L, Raijmakers R, Mastronardi FG, Moscarello MA.

Lab Invest. 2008 Apr;88(4):354-64. doi: 10.1038/labinvest.3700748. Epub 2008 Jan 28.

24.

OCTN3 is a mammalian peroxisomal membrane carnitine transporter.

Lamhonwah AM, Ackerley CA, Tilups A, Edwards VD, Wanders RJ, Tein I.

Biochem Biophys Res Commun. 2005 Dec 30;338(4):1966-72. Epub 2005 Nov 10.

PMID:
16288981
25.

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA.

Hum Mol Genet. 2005 Sep 15;14(18):2727-36. Epub 2005 Aug 22.

PMID:
16115820
26.

Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.

Munteanu I, Ackerley CA, Mnatzakanian GN, Kissel JT, Minassian BA.

Neurology. 2005 Mar 8;64(5):927-8. No abstract available.

PMID:
15753448
27.

Expanded repeat in canine epilepsy.

Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA.

Science. 2005 Jan 7;307(5706):81.

28.

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.

Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA.

Hum Mol Genet. 2004 Jun 1;13(11):1117-29. Epub 2004 Apr 21.

PMID:
15102711
29.
30.

Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, Minassian BA.

Neurology. 2003 Dec 9;61(11):1611-4.

PMID:
14663053
31.

Abnormalities in villin gene expression and canalicular microvillus structure in progressive cholestatic liver disease of childhood.

Phillips MJ, Azuma T, Meredith SL, Squire JA, Ackerley CA, Pluthero FG, Roberts EA, Superina RA, Levy GA, Marsden PA.

Lancet. 2003 Oct 4;362(9390):1112-9.

PMID:
14550699
32.

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW.

Nat Genet. 2003 Oct;35(2):125-7. Epub 2003 Sep 7.

PMID:
12958597
33.

Unusual presentation of Lafora's disease.

Al Otaibi SF, Minassian BA, Ackerley CA, Logan WJ, Weiss S.

J Child Neurol. 2003 Jul;18(7):499-501.

PMID:
12940657
34.

Presenilin-1, nicastrin, amyloid precursor protein, and gamma-secretase activity are co-localized in the lysosomal membrane.

Pasternak SH, Bagshaw RD, Guiral M, Zhang S, Ackerley CA, Pak BJ, Callahan JW, Mahuran DJ.

J Biol Chem. 2003 Jul 18;278(29):26687-94. Epub 2003 May 7.

35.

Identification of Dp71 isoforms in the platelet membrane cytoskeleton. Potential role in thrombin-mediated platelet adhesion.

Austin RC, Fox JE, Werstuck GH, Stafford AR, Bulman DE, Dally GY, Ackerley CA, Weitz JI, Ray PN.

J Biol Chem. 2002 Dec 6;277(49):47106-13. Epub 2002 Oct 4.

36.

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.

Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW.

Ann Neurol. 2001 Feb;49(2):271-5.

PMID:
11220751
37.

Endogenous Zn(2+) is required for the induction of long-term potentiation at rat hippocampal mossy fiber-CA3 synapses.

Lu YM, Taverna FA, Tu R, Ackerley CA, Wang YT, Roder J.

Synapse. 2000 Nov;38(2):187-97.

PMID:
11018793
38.

Tuberin expression in ganglioglioma.

Arai Y, Ackerley CA, Becker LE.

Ultrastruct Pathol. 2000 Mar-Apr;24(2):93-8.

PMID:
10808554
39.

Loss of the TSC2 product tuberin in subependymal giant-cell tumors.

Arai Y, Ackerley CA, Becker LE.

Acta Neuropathol. 1999 Sep;98(3):233-9.

PMID:
10483779
40.

Translocation of verotoxin-1 across T84 monolayers: mechanism of bacterial toxin penetration of epithelium.

Philpott DJ, Ackerley CA, Kiliaan AJ, Karmali MA, Perdue MH, Sherman PM.

Am J Physiol. 1997 Dec;273(6):G1349-58. doi: 10.1152/ajpgi.1997.273.6.G1349.

PMID:
9435561
41.

Increased expression of CD44 on astrocytoma cells induced by binding myelin basic protein.

Owh P, da Cruz LA, Ackerley CA, Moscarello MA.

Eur J Cell Biol. 1997 Oct;74(2):172-80.

PMID:
9352222
42.

Recruitment of functional GABA(A) receptors to postsynaptic domains by insulin.

Wan Q, Xiong ZG, Man HY, Ackerley CA, Braunton J, Lu WY, Becker LE, MacDonald JF, Wang YT.

Nature. 1997 Aug 14;388(6643):686-90.

PMID:
9262404
43.

Loss of myelin basic protein cationicity in DM20 transgenic mice is dosage dependent.

Mastronardi FG, Ackerley CA, Roots BI, Moscarello MA.

J Neurosci Res. 1996 May 15;44(4):301-7.

PMID:
8739149
44.

Gene expression of islet cell antigen p69 in human, mouse, and rat.

Karges W, Pietropaolo M, Ackerley CA, Dosch HM.

Diabetes. 1996 Apr;45(4):513-21.

PMID:
8603775
45.

Excess zinc associated with severe progressive cholestasis in Cree and Ojibwa-Cree children.

Phillips MJ, Ackerley CA, Superina RA, Roberts EA, Filler RM, Levy GA.

Lancet. 1996 Mar 30;347(9005):866-8. Erratum in: Lancet 1996 Jun 22;347(9017):1776.

PMID:
8622393
46.

Identification of a mitogen-activated protein kinase site in human myelin basic protein in situ.

Yon M, Ackerley CA, Mastronardi FG, Groome N, Moscarello MA.

J Neuroimmunol. 1996 Mar;65(1):55-9.

PMID:
8642064
47.

Modifications of myelin basic protein in DM20 transgenic mice are similar to those in myelin basic protein from multiple sclerosis.

Mastronardi FG, Mak B, Ackerley CA, Roots BI, Moscarello MA.

J Clin Invest. 1996 Jan 15;97(2):349-58.

48.
49.
50.

Cadmium encephalopathy: a report with elemental analysis and pathological findings.

Provias JP, Ackerley CA, Smith C, Becker LE.

Acta Neuropathol. 1994;88(6):583-6.

PMID:
7879607

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