Mole SE - Search Results

1

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.

Lopez-Fabuel I, Garcia-Macia M, Buondelmonte C, Burmistrova O, Bonora N, Alonso-Batan P, Morant-Ferrando B, Vicente-Gutierrez C, Jimenez-Blasco D, Quintana-Cabrera R, Fernandez E, Llop J, Ramos-Cabrer P, Sharaireh A, Guevara-Ferrer M, Fitzpatrick L, Thompton CD, McKay TR, Storch S, Medina DL, Mole SE, Fedichev PO, Almeida A, Bolaños JP. Lopez-Fabuel I, et al. Among authors: mole se. Nat Commun. 2022 Jan 27;13(1):536. doi: 10.1038/s41467-022-28191-1. Nat Commun. 2022. PMID: 35087090 Free PMC article.

2

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

Mitchell WA, Wheeler RB, Sharp JD, Bate SL, Gardiner RM, Ranta US, Lonka L, Williams RE, Lehesjoki AE, Mole SE. Mitchell WA, et al. Among authors: mole se. Eur J Paediatr Neurol. 2001;5 Suppl A:21-7. doi: 10.1053/ejpn.2000.0429. Eur J Paediatr Neurol. 2001. PMID: 11589000

3

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki AE, Mole SE, Braulke T. Heine C, et al. Among authors: mole se. Mol Membr Biol. 2007 Jan-Feb;24(1):74-87. doi: 10.1080/09687860600967317. Mol Membr Biol. 2007. PMID: 17453415 Free article.

4

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE. Kitzmüller C, et al. Among authors: mole se. Hum Mol Genet. 2008 Jan 15;17(2):303-12. doi: 10.1093/hmg/ddm306. Epub 2007 Oct 18. Hum Mol Genet. 2008. PMID: 17947292

5

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. Aiello C, et al. Among authors: mole se. Hum Mutat. 2009 Mar;30(3):E530-40. doi: 10.1002/humu.20975. Hum Mutat. 2009. PMID: 19177532

6

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. Lebrun AH, et al. Among authors: mole se. Hum Mutat. 2009 May;30(5):E651-61. doi: 10.1002/humu.21010. Hum Mutat. 2009. PMID: 19309691

7

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. Lebrun AH, et al. Among authors: mole se. Mol Med. 2011;17(11-12):1253-61. doi: 10.2119/molmed.2010.00241. Epub 2011 Aug 18. Mol Med. 2011. PMID: 21863212 Free PMC article.

8

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses.

Williams RE, Mole SE. Williams RE, et al. Among authors: mole se. Neurology. 2012 Jul 10;79(2):183-91. doi: 10.1212/WNL.0b013e31825f0547. Neurology. 2012. PMID: 22778232

9

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. Faller KM, et al. Among authors: mole se. J Neurosci Res. 2016 Apr;94(4):339-47. doi: 10.1002/jnr.23710. Epub 2016 Jan 13. J Neurosci Res. 2016. PMID: 26762174 Free article.

10

Neuronal ceroid lipofuscinoses.

Nita DA, Mole SE, Minassian BA. Nita DA, et al. Among authors: mole se. Epileptic Disord. 2016 Sep 1;18(S2):73-88. doi: 10.1684/epd.2016.0844. Epileptic Disord. 2016. PMID: 27629553 Review.

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