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Items: 1 to 50 of 119

1.

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Gardner E, Bailey M, Schulz A, Aristorena M, Miller N, Mole SE.

Hum Mutat. 2019 Jul 8. doi: 10.1002/humu.23860. [Epub ahead of print]

PMID:
31283065
2.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, Krieger P, Damiano JA, Hildebrand MS, Morbin M, Vears DF, Sofia V, Giuliano L, Garavaglia B, Simonati A, Santorelli FM, Gambardella A, Labate A, Belcastro V, Castellotti B, Ozkara C, Zeman A, Rankin J, Mole SE, Aguglia U, Farrell M, Rajagopalan S, McDougall A, Brammah S, Andermann F, Andermann E, Dahl HM, Franceschetti S, Carpenter S.

Brain. 2019 Jan 1;142(1):59-69. doi: 10.1093/brain/awy297.

PMID:
30561534
3.

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.

Mole SE, Anderson G, Band HA, Berkovic SF, Cooper JD, Kleine Holthaus SM, McKay TR, Medina DL, Rahim AA, Schulz A, Smith AJ.

Lancet Neurol. 2019 Jan;18(1):107-116. doi: 10.1016/S1474-4422(18)30368-5. Epub 2018 Nov 21. Review.

PMID:
30470609
4.

Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses.

Kleine Holthaus SM, Smith AJ, Mole SE, Ali RR.

Adv Exp Med Biol. 2018;1074:91-99. doi: 10.1007/978-3-319-75402-4_12. Review.

PMID:
29721932
5.

Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells.

Kleine Holthaus SM, Ribeiro J, Abelleira-Hervas L, Pearson RA, Duran Y, Georgiadis A, Sampson RD, Rizzi M, Hoke J, Maswood R, Azam S, Luhmann UFO, Smith AJ, Mole SE, Ali RR.

Mol Ther. 2018 May 2;26(5):1343-1353. doi: 10.1016/j.ymthe.2018.02.027. Epub 2018 Mar 2.

6.

Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation.

Danyukova T, Ariunbat K, Thelen M, Brocke-Ahmadinejad N, Mole SE, Storch S.

Hum Mol Genet. 2018 May 15;27(10):1711-1722. doi: 10.1093/hmg/ddy076.

7.

The value of a comprehensive natural history in late infantile CLN5 disease.

Mole SE.

Dev Med Child Neurol. 2017 Aug;59(8):777-778. doi: 10.1111/dmcn.13472. Epub 2017 May 29. No abstract available.

8.

NCLs and ER: A stressful relationship.

Marotta D, Tinelli E, Mole SE.

Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1273-1281. doi: 10.1016/j.bbadis.2017.04.003. Epub 2017 Apr 6. Review.

9.

CLN8 disease caused by large genomic deletions.

Beesley C, Guerreiro RJ, Bras JT, Williams RE, Taratuto AL, Eltze C, Mole SE.

Mol Genet Genomic Med. 2016 Nov 23;5(1):85-91. doi: 10.1002/mgg3.263. eCollection 2017 Jan.

10.

Neuronal ceroid lipofuscinoses.

Nita DA, Mole SE, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):73-88. Review.

PMID:
27629553
11.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N.

Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25.

12.

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium.

Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13.

13.

Mutation of TBCK causes a rare recessive developmental disorder.

Guerreiro RJ, Brown R, Dian D, de Goede C, Bras J, Mole SE.

Neurol Genet. 2016 May 24;2(3):e76. doi: 10.1212/NXG.0000000000000076. eCollection 2016 Jun. Erratum in: Neurol Genet. 2016 Aug 04;2(4):e86.

14.

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C, Alroy J, Penderis J, Mole SE, Gutierrez-Quintana R, Guerreiro RJ.

J Neurosci Res. 2016 Apr;94(4):339-47. doi: 10.1002/jnr.23710. Epub 2016 Jan 13.

PMID:
26762174
15.

A central role for TOR signalling in a yeast model for juvenile CLN3 disease.

Bond ME, Brown R, Rallis C, Bähler J, Mole SE.

Microb Cell. 2015 Nov 11;2(12):466-480. doi: 10.15698/mic2015.12.241.

16.

Special issue: Molecular basis of NCL.

Kohan R, Mole SE, Cotman SL.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2235-6. doi: 10.1016/j.bbadis.2015.06.023. Epub 2015 Jun 27. No abstract available.

17.

Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.

Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, de Hidalgo PK, Holthaus SM, Mole SE, Mugnaini J, de Ramirez AM, Pesaola F, Rautenberg G, Platt FM, Noher de Halac I.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2316-23. doi: 10.1016/j.bbadis.2015.06.018. Epub 2015 Jun 24.

18.

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

Mole SE, Cotman SL.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2237-41. doi: 10.1016/j.bbadis.2015.05.011. Epub 2015 May 27. Review.

19.

Future perspectives: Moving towards NCL treatments.

Cotman SL, Mole SE, Kohan R.

Biochim Biophys Acta. 2015 Oct;1852(10 Pt B):2336-8. doi: 10.1016/j.bbadis.2015.04.001. Epub 2015 Apr 7. Review.

20.

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H.

Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. No abstract available.

21.

Development of new treatments for Batten disease.

Mole SE.

Lancet Neurol. 2014 Aug;13(8):749-51. doi: 10.1016/S1474-4422(14)70151-6. Epub 2014 Jul 2. No abstract available.

PMID:
24997881
22.

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M.

Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14.

23.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Oct 10 [updated 2013 Aug 1].

24.

CLN6 disease caused by the same mutation originating in Pakistan has varying pathology.

Guerreiro R, Bras JT, Vieira M, Warrier V, Agrawal S, Stewart H, Anderson G, Mole SE.

Eur J Paediatr Neurol. 2013 Nov;17(6):657-60. doi: 10.1016/j.ejpn.2013.04.011. Epub 2013 Jun 2.

25.

Special issue: molecular basis of the NCLs.

Mole SE, Williams RE, Cooper JD.

Biochim Biophys Acta. 2013 Nov;1832(11):1793-4. doi: 10.1016/j.bbadis.2013.05.025. Epub 2013 May 29. No abstract available.

26.

Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses.

Warrier V, Vieira M, Mole SE.

Biochim Biophys Acta. 2013 Nov;1832(11):1827-30. doi: 10.1016/j.bbadis.2013.03.017. Epub 2013 Mar 28. Review.

27.

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.

Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M.

Hum Mol Genet. 2013 Apr 1;22(7):1417-23. doi: 10.1093/hmg/dds558. Epub 2013 Jan 7.

28.

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Williams RE, Mole SE.

Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547.

PMID:
22778232
29.

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF.

Am J Hum Genet. 2012 Jun 8;90(6):1102-7. doi: 10.1016/j.ajhg.2012.04.021. Epub 2012 May 17.

30.

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.

Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ.

Hum Mol Genet. 2012 Jun 15;21(12):2646-50. doi: 10.1093/hmg/dds089. Epub 2012 Mar 2.

31.

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 Dec 9;416(1-2):159-64. doi: 10.1016/j.bbrc.2011.11.016. Epub 2011 Nov 11.

PMID:
22100646
32.

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. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Review.

PMID:
21990111
33.

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;17(11-12):1253-61. doi: 10.2119/molmed.2010.00241. Epub 2011 Aug 18.

34.

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. doi: 10.1016/j.ajhg.2011.07.003. Epub 2011 Aug 4. Erratum in: Am J Hum Genet. 2011 Oct 7;89(4):589.

35.

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. doi: 10.1016/j.ajhg.2011.04.004. Epub 2011 May 5.

36.

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. doi: 10.1177/0883073810387298. Epub 2011 Mar 29.

PMID:
21447811
37.

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.

38.

Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease.

Pears MR, Codlin S, Haines RL, White IJ, Mortishire-Smith RJ, Mole SE, Griffin JL.

Mol Biosyst. 2010 Jun;6(6):1093-102. doi: 10.1039/b915670d. Epub 2010 Mar 17.

PMID:
20485751
39.

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL.

Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K.

Neurology. 2010 Feb 16;74(7):565-71. doi: 10.1212/WNL.0b013e3181cff70d.

PMID:
20157158
40.

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

Kurze AK, Galliciotti G, Heine C, Mole SE, Quitsch A, Braulke T.

Hum Mutat. 2010 Feb;31(2):E1163-74. doi: 10.1002/humu.21184.

PMID:
20020536
41.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

Lebrun AH, Storch S, Rüschendorf F, Schmiedt ML, Kyttälä A, Mole SE, Kitzmüller C, Saar K, Mewasingh LD, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A.

Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010.

PMID:
19309691
42.

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p.

Codlin S, Mole SE.

J Cell Sci. 2009 Apr 15;122(Pt 8):1163-73. doi: 10.1242/jcs.038323. Epub 2009 Mar 19.

43.

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE.

Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5.

PMID:
19201763
44.

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps D, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM.

Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975.

PMID:
19177532
45.

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.

Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T.

Pediatr Neurol. 2009 Feb;40(2):134-7. doi: 10.1016/j.pediatrneurol.2008.10.012.

PMID:
19135632
46.

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio MR, Biancheri R, Morbin M, Dalla Bernardina B, Granata T, Tessa A, Invernizzi F, Pessagno A, Boldrini R, Zibordi F, Grazian L, Claps D, Carrozzo R, Mole SE, Nardocci N, Santorelli FM.

Biochem Biophys Res Commun. 2009 Feb 20;379(4):892-7. doi: 10.1016/j.bbrc.2008.12.159. Epub 2009 Jan 7.

PMID:
19135028
47.

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

Haines RL, Codlin S, Mole SE.

Dis Model Mech. 2009 Jan-Feb;2(1-2):84-92. doi: 10.1242/dmm.000851. Epub 2008 Dec 22.

48.

Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH.

Codlin S, Haines RL, Burden JJ, Mole SE.

J Cell Sci. 2008 Sep 1;121(Pt 17):2860-70. doi: 10.1242/jcs.030122. Epub 2008 Aug 12.

49.

btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe.

Codlin S, Haines RL, Mole SE.

Traffic. 2008 Jun;9(6):936-50. doi: 10.1111/j.1600-0854.2008.00735.x. Epub 2008 Mar 10.

50.

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data.

Nugent T, Mole SE, Jones DT.

FEBS Lett. 2008 Apr 2;582(7):1019-24. doi: 10.1016/j.febslet.2008.02.049. Epub 2008 Feb 29.

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