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"Beoordelen evolutie NCL research door wetenschappelijke rapportering"
01/2012 - Danielle KErkkovic PhD - BDRSA

Overzicht van publicaties in 2011

pH-dependent localization of Btn1p in the yeast model for Batten disease.
Wolfe DM, Padilla-Lopez S, Vitiello SP, Pearce DA.
Dis Model Mech. 2011 Jan;4(1):120-5. Epub 2010 Oct 19.

Immunosuppression alters disease severity in juvenile Batten disease mice.
Seehafer SS, Ramirez-Montealegre D, Wong AM, Chan CH, Castaneda J, Horak M, Ahmadi SM, Lim MJ, Cooper JD, Pearce DA.
J Neuroimmunol. 2011 Jan;230(1-2):169-72.

A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells.
Getty AL, Benedict JW, Pearce DA.
Exp Cell Res. 2011 Jan 1;317(1):51-69. Epub 2010 Sep 17.

A missense mutation in canine CLN6 in an Australian shepherd with neuronal ceroid lipofuscinosis.
Katz ML, Farias FH, Sanders DN, Zeng R, Khan S, Johnson GS, O'Brien DP.
J Biomed Biotechnol. 2011;2011:198042. Epub 2010 Dec 22.

Different early ER-stress responses in the CLN8(mnd) mouse model of neuronal ceroid lipofuscinosis.
Galizzi G, Russo D, Deidda I, Cascio C, Passantino R, Guarneri R, Bigini P, Mennini T, Drago G, Guarneri P.
Neurosci Lett. 2011 Jan 25;488(3):258-62. Epub 2010 Nov 19.

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures.
Ding SL, Tecedor L, Stein CS, Davidson BL.
Neurobiol Dis. 2011 Feb;41(2):237-48. Epub 2010 Sep 25.

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
Valadares ER, Pizarro MX, Oliveira LR, Amorim RH, Pinheiro TM, Grieben U, Santos HH, Queiroz RR, Lopes Gde C, Godard AL.
Arq Neuropsiquiatr. 2011 Feb;69(1):13-8.

Temporary inhibition of AMPA receptors induces a prolonged improvement of motor performance in a mouse model of juvenile Batten disease.
Kovács AD, Saje A, Wong A, Szénási G, Kiricsi P, Szabó E, Cooper JD, Pearce DA.
Neuropharmacology. 2011 Feb-Mar;60(2-3):405-9. Epub 2010 Oct 29.

Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.
An Haack K, Narayan SB, Li H, Warnock A, Tan L, Bennett MJ.
Biochim Biophys Acta. 2011 Feb;1810(2):186-91. Epub 2010 Oct 7.

A two-dimensional protein fragmentation-proteomic study of neuronal ceroid lipofuscinoses: identification and characterization of differentially expressed proteins.
Wang P, Ju W, Wu D, Wang L, Yan M, Zou J, He B, Jenkins EC, Brown WT, Zhong N.
J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Feb 15;879(5-6):304-16. Epub 2010 Dec 23.

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.
Cao Y, Staropoli JF, Biswas S, Espinola JA, Macdonald ME, Lee JM, Cotman SL.
PLoS One. 2011 Feb 17;6(2):e17118.

Disruption of adaptive energy metabolism and elevated ribosomal p-S6K1 levels contribute to INCL pathogenesis: partial rescue by resveratrol.
Wei H, Zhang Z, Saha A, Peng S, Chandra G, Quezado Z, Mukherjee AB.
Hum Mol Genet. 2011 Mar 15;20(6):1111-21. Epub 2010 Dec 28.

[Detection of vacuolated peripheral blood lymphocytes in screening for and diagnosis of lysosomal storage diseases].
Chang XZ, Liu JY, Wu Y, Jiang YW, Xiong H, Wang S, Qin J.
Zhonghua Er Ke Za Zhi. 2011 Feb;49(2):135-8. Chinese.

Lithium rescues the impaired autophagy process in CbCln3(Δex7/8/Δex7/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition.
Chang JW, Choi H, Cotman SL, Jung YK.
J Neurochem. 2011 Feb;116(4):659-68. doi: 10.1111/j.1471-4159.2010.07158.x. Epub 2011 Jan 19.

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
Wang YL, Zeng ZY, Song XW, Hao ZF, Shi YW, Tang B, Chen SQ, Gao MM, Di W, Long YS, Yi YH, Liao WP.
Neurogenetics. 2011 Feb;12(1):93-5. Epub 2010 Sep 7. No abstract available.

Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.
Getty AL, Pearce DA.
Cell Mol Life Sci. 2011 Feb;68(3):453-74. Epub 2010 Aug 1. Review.

Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline.
Sims KB, Cole AJ, Sherman JC, Caruso PA, Snuderl M.
N Engl J Med. 2011 Mar 17;364(11):1062-74. No abstract available.

The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction.
Kay GW, Jay NP, Palmer DN.
Neurobiol Dis. 2011 Mar;41(3):614-23. Epub 2010 Nov 24.

Comment on "Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease".
Pearce DA, Padilla-Lopez S.
Mol Biosyst. 2011 Apr;7(4):1347-8; author reply 1349. Epub 2011 Jan 24.

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses.
Salek RM, Pears MR, Cooper JD, Mitchison HM, Pearce DA, Mortishire-Smith RJ, Griffin JL.
J Biomol NMR. 2011 Apr;49(3-4):175-84. Epub 2011 Apr 3.

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Ostergaard JR, Rasmussen TB, Mølgaard H.
Neurology. 2011 Apr 5;76(14):1245-51.

Wall, CM
The College of New Jersey Journal of Student Scholarship (TCNJ) Vol XIII April 2011

Btn3 is a negative regulator of Btn2-mediated endosomal protein trafficking and prion curing in yeast.
Kanneganti V, Kama R, Gerst JE.
Mol Biol Cell. 2011 May 15;22(10):1648-63. Epub 2011 Mar 25.

The Batten disease gene CLN3 is required for the response to oxidative stress.
Tuxworth RI, Chen H, Vivancos V, Carvajal N, Huang X, Tear G.
Hum Mol Genet. 2011 May 15;20(10):2037-47. Epub 2011 Mar 3.

Reply to Comment on “Deletion of btn1, an orthologue of CLN3 ...
Mole, SE and Codlin, S and Griffin, JL
MOL BIOSYST , 7 May 2011 (4) 1349 - 1349.

Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.
Al-Kowari MK, Hassan S, El-Said MF, Ben-Omran T, Hedin L, Mole SE, Badii R.
J Child Neurol. 2011 May;26(5):625-9. Epub 2011 Mar 29.

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, Sofia V, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF.
Am J Hum Genet. 2011 May 13;88(5):566-73. Epub 2011 May 5.

Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.
Finn R, Kovács AD, Pearce DA.
Neurochem Int. 2011 May;58(6):648-55. Epub 2011 Feb 17.

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Kohan R, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI.
Curr Pharm Biotechnol. 2011 Jun;12(6):867-83. doi: 1389-2010/11 $58.00+.00. Review.

TFEB links autophagy to lysosomal biogenesis.
Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A.
Science. 2011 Jun 17;332(6036):1429-33. Epub 2011 May 26.

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.
Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML.
Neurobiol Dis. 2011 Jun;42(3):468-74. Epub 2011 Feb 26.

Challenging symptom profiles of life-limiting conditions in children: a survey of care professionals and families.
Malcolm C, Forbat L, Anderson G, Gibson F, Hain R.
Palliat Med. 2011 Jun;25(4):357-64. Epub 2011 Jan 12.

Inborn errors of metabolism for child neurology residents.
Patterson MC.
Semin Pediatr Neurol. 2011 Jun;18(2):95-7.

Clarifying lysosomal storage diseases.
Schultz ML, Tecedor L, Chang M, Davidson BL.
Trends Neurosci. 2011 Aug;34(8):401-10. Epub 2011 Jun 30.

Lentiviral-mediated gene transfer to the sheep brain: implications for gene therapy in batten disease.
Linterman KS, Palmer DN, Kay GW, Barry LA, Mitchell NL, McFarlane RG, Black MA, Sands MS, Hughes SM.
Hum Gene Ther. 2011 Aug;22(8):1011-20. Epub 2011 May 19.

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Nosková L, Stránecký V, Hartmannová H, Přistoupilová A, Barešová V, Ivánek R, Hůlková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S.
Am J Hum Genet. 2011 Aug 12;89(2):241-52. Epub 2011 Aug 4.

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A.
Mol Med. 2011 Aug 18. doi: 10.2119/molmed.2010.00241. [Epub ahead of print]

Neuronal ceroid-lipofuscinosis in longhaired Chihuahuas: clinical, pathologic, and MRI findings.
Nakamoto Y, Yamato O, Uchida K, Nibe K, Tamura S, Ozawa T, Ueoka N, Nukaya A, Yabuki A, Nakaichi M.
J Am Anim Hosp Assoc. 2011 Jul-Aug;47(4):e64-70. Epub 2011 Jun 14.

Imaging gene delivery in a mouse model of congenital neuronal ceroid lipofuscinosis.
Pike LS, Tannous BA, Deliolanis NC, Hsich G, Morse D, Tung CH, Sena-Esteves M, Breakefield XO.
Gene Ther. 2011 Sep 8. doi: 10.1038/gt.2011.118. [Epub ahead of print]

Transcriptional activation of lysosomal exocytosis promotes cellular clearance.
Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, Puri C, Pignata A, Martina JA, Sardiello M, Palmieri M, Polishchuk R, Puertollano R, Ballabio A.
Dev Cell. 2011 Sep 13;21(3):421-30. Epub 2011 Sep 1.

Late Infantile Neuronal Ceroid Lipofuscinosis and Dopamine Deficiency.
Le NM, Parikh S.
J Child Neurol. 2011 Sep 22. [Epub ahead of print]

When ethics constrains clinical research: trial design of control arms in "greater than minimal risk" pediatric trials.
de Melo-Martín I, Sondhi D, Crystal RG.
Hum Gene Ther. 2011 Sep;22(9):1121-7. Epub 2011 May 19.

Protective potential of resveratrol against oxidative stress and apoptosis in Batten disease lymphoblast cells.
Yoon DH, Kwon OY, Mang JY, Jung MJ, Kim do Y, Park YK, Heo TH, Kim SJ.
Biochem Biophys Res Commun. 2011 Oct 14;414(1):49-52. Epub 2011 Sep 14.

The yeast Batten disease orthologue Btn1 controls endosome-Golgi retrograde transport via SNARE assembly.
Kama R, Kanneganti V, Ungermann C, Gerst JE.
J Cell Biol. 2011 Oct 17;195(2):203-15. Epub 2011 Oct 10.

Quantitative telemedicine ratings in Batten disease: Implications for rare disease research.
Cialone J, Augustine EF, Newhouse N, Vierhile A, Marshall FJ, Mink JW.
Neurology. 2011 Nov 15;77(20):1808-11. Epub 2011 Oct 19.

Parent-reported benefits of flupirtine in juvenile neuronal ceroid lipofuscinosis (Batten disease; CLN3) are not supported by quantitative data.
Cialone J, Augustine EF, Newhouse N, Adams H, Vierhile A, Marshall FJ, de Blieck EA, Kwon J, Rothberg PG, Mink JW.
J Inherit Metab Dis. 2011 Oct;34(5):1075-81. Epub 2011 May 10.

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.
Pérez-Poyato MS, Milà Recansens M, Ferrer Abizanda I, Montero Sánchez R, Rodríguez-Revenga L, Cusí Sánchez V, García González MM, Domingo Jiménez R, Camino León R, Velázquez Fragua R, Martínez-Bermejo A, Pineda Marfà M.
J Inherit Metab Dis. 2011 Oct;34(5):1083-93. Epub 2011 Apr 16.

Measuring to improve: A new rating scale for Batten disease.
Patterson MC.
Neurology. 2011 Nov 15;77(20):1779-80. Epub 2011 Oct 19. No abstract available.

High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.
Thelen M, Fehr S, Schweizer M, Braulke T, Galliciotti G.
J Neurosci Res. 2011 Oct 19. doi: 10.1002/jnr.22773. [Epub ahead of print]

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Palmieri M, Impey S, Kang H, di Ronza A, Pelz C, Sardiello M, Ballabio A.
Hum Mol Genet. 2011 Oct 1;20(19):3852-66. Epub 2011 Jul 13.

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE.
Hum Mutat. 2011 Oct 11. doi: 10.1002/humu.21624. [Epub ahead of print] Review.

Neuronal Ceroid-Lipofuscinoses.
Mole SE, Williams RE.
In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.
2001 Oct 10 [updated 2010 Mar 02].

Book/Media Reviews: The Neuronal Ceroid Lipofuscinoses (Batten ...
Brumback RA.
J Child Neurol. 2011 Oct;26(10):1330. No abstract available.

The role of attenuated astrocyte activation in infantile neuronal ceroid lipofuscinosis.
Macauley SL, Pekny M, Sands MS.
J Neurosci. 2011 Oct 26;31(43):15575-85.

Altered glutamate receptor function in the cerebellum of the Ppt1(-/-) mouse, a murine model of infantile neuronal ceroid lipofuscinosis.
Finn R, Kovács AD, Pearce DA.
J Neurosci Res. 2011 Oct 4. doi: 10.1002/jnr.22763. [Epub ahead of print]

A reversal learning task detects cognitive deficits in a Dachshund model of late-infantile neuronal ceroid lipofuscinosis.
Sanders DN, Kanazono S, Wininger FA, Whiting RE, Flournoy CA, Coates JR, Castaner LJ, O'Brien DP, Katz ML.
Genes Brain Behav. 2011 Oct;10(7):798-804. doi: 10.1111/j.1601-183X.2011.00718.x. Epub 2011 Aug 7.

[Anesthetic management of patients with neuronal ceroid lipofusucinosis].
Hiramori T, Goto S, Kuroiwa K, Mochizuki N, Takano T, Kawakami K, Nishizawa M.
Masui. 2011 Oct;60(10):1207-10. Japanese.

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier.
Wöhlke A, Philipp U, Bock P, Beineke A, Lichtner P, Meitinger T, Distl O.
PLoS Genet. 2011 Oct;7(10):e1002304. Epub 2011 Oct 13.

Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuronal ceroid lipofuscinosis.
Xu S, Wang L, El-Banna M, Sohar I, Sleat DE, Lobel P.
Mol Ther. 2011 Oct;19(10):1842-8. doi: 10.1038/mt.2011.130. Epub 2011 Jul 5.

TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes.
Settembre C, Ballabio A.
Autophagy. 2011 Nov 1;7(11):1379-81. Epub 2011 Nov 1.

Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
Kwon JM, Adams H, Rothberg PG, Augustine EF, Marshall FJ, Deblieck EA, Vierhile A, Beck CA, Newhouse NJ, Cialone J, Levy E, Ramirez-Montealegre D, Dure LS, Rose KR, Mink JW.
Neurology. 2011 Nov 15;77(20):1801-7. Epub 2011 Oct 19.

[Tripeptidyl peptidase 1 in patients with late infantile neuronal ceroid lipofuscinosis.]
Miranda Contreras L, Delgado Luengo W, Zerpa N, Chacín Hernández J, Chávez CJ, González Ferrer S.
An Pediatr (Barc). 2011 Nov 17. [Epub ahead of print] Spanish.

Involvement of the mitochondrial compartment in human NCL fibroblasts.
Pezzini F, Gismondi F, Tessa A, Tonin P, Carrozzo R, Mole SE, Santorelli FM, Simonati A.
Biochem Biophys Res Commun. 2011 Nov 11. [Epub ahead of print]

Exome-Sequencing Confirms DNAJC5 Mutations as Cause of Adult Neuronal Ceroid-Lipofuscinosis.
Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C.
PLoS One. 2011;6(11):e26741. Epub 2011 Nov 4.

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8(mnd) : implications to delayed myelination and oligodendrocyte maturation.
Kuronen M, Hermansson M, Manninen O, Zech I, Talvitie M, Laitinen T, Gröhn O, Somerharju P, Eckhardt M, Cooper JD, Lehesjoki AE, Lahtinen U, Kopra O.
Neuropathol Appl Neurobiol. 2011 Nov 2. doi: 10.1111/j.1365-2990.2011.01233.x. [Epub ahead of print]

Developmental study of tripeptidyl peptidase I activity in the mouse central nervous system and peripheral organs.
Dimitrova M, Deleva D, Pavlova V, Ivanov I.
Cell Tissue Res. 2011 Nov;346(2):141-9. Epub 2011 Oct 14.

Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis.
Vuillemenot BR, Katz ML, Coates JR, Kennedy D, Tiger P, Kanazono S, Lobel P, Sohar I, Xu S, Cahayag R, Keve S, Koren E, Bunting S, Tsuruda LS, O'Neill CA.
Mol Genet Metab. 2011 Nov;104(3):325-37. Epub 2011 Jun 30.

Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.
Sarkar C, Zhang Z, Mukherjee AB.
Mol Genet Metab. 2011 Nov;104(3):338-45. Epub 2011 Jun 13.

Clinical and Pathologic Features of Neuronal Ceroid-Lipofuscinosis in a Ferret (Mustela putorius furo).
Nibe K, Miwa Y, Matsunaga S, Chambers JK, Uetsuka K, Nakayama H, Uchida K.
Vet Pathol. 2011 Nov;48(6):1185-9. Epub 2011 Mar 7.

Morphologic and functional correlates of synaptic pathology in the cathepsin d knockout mouse model of congenital neuronal ceroid lipofuscinosis.
Koch S, Molchanova SM, Wright AK, Edwards A, Cooper JD, Taira T, Gillingwater TH, Tyynelä J.
J Neuropathol Exp Neurol. 2011 Dec;70(12):1089-96.

Deficient mitochondrial Ca(2+) buffering in the Cln8(mnd) mouse model of neuronal ceroid lipofuscinosis.
Kolikova J, Afzalov R, Surin A, Lehesjoki AE, Khiroug L.
Cell Calcium. 2011 Dec;50(6):491-501. Epub 2011 Sep 13.

Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form.
Kay C.
Clin Genet. 2011 Dec;80(6):505-6. doi: 10.1111/j.1399-0004.2011.01761.x. Epub 2011 Aug 30.

Danielle M Kerkovich, PhD
Principal Scientist,
Beyond Batten Disease Foundation
Scientific Officer,
Batten Disease Research and Association

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