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Items: 1 to 20 of 84

1.
Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses
R. Kohan, I.A. Cismondi, A.M. Oller-Ramirez, N. Guelbert, V. Tapia Anzolini, G. Alonso, S.E. Mole, R. Dodelson de Kremer, I. Noher de Halac
Curr Pharm Biotechnol. Author manuscript; available in PMC 2013 Apr 22.
Published in final edited form as: Curr Pharm Biotechnol. 2011 Jun; 12(6): 867–883. doi: 10.2174/138920111795542633
PMCID:
PMC3632406
AbstractArticlePDF–1.6M
2.
The Role of Ceroid Lipofuscinosis Neuronal Protein 5 (CLN5) in Endosomal Sorting
Aline Mamo, Felix Jules, Karine Dumaresq-Doiron, Santiago Costantino, Stephane Lefrancois
Mol Cell Biol. 2012 May; 32(10): 1855–1866. doi: 10.1128/MCB.06726-11
PMCID:
PMC3347407
AbstractArticlePDF–2.2M
3.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
Hum Genomics. 2024; 18: 46. Published online 2024 May 10. doi: 10.1186/s40246-024-00613-9
PMCID:
PMC11088154
AbstractArticlePDF–1.6M
4.
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy
James Wawrzynski, Ana Rodriguez Martinez, Dorothy Ann Thompson, Dipak Ram, Richard Bowman, Rebecca Whiteley, Chin Gan, Louise Harding, Amanda Mortensen, Philippa Mills, Paul Gissen, Robert H. Henderson
Eye (Lond) 2024 Apr; 38(6): 1176–1182. Published online 2023 Dec 4. doi: 10.1038/s41433-023-02859-4
PMCID:
PMC11009280
AbstractArticlePDF–2.0M
5.
Recognition and epileptology of protracted CLN3 disease
Jillian M. Cameron, John A. Damiano, Bronwyn Grinton, Patrick W. Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E. Scheffer, Karen L. Oliver, Michael S. Hildebrand, Samuel F. Berkovic
Epilepsia. 2023 Jul; 64(7): 1833–1841. Published online 2023 Apr 27. doi: 10.1111/epi.17616
PMCID:
PMC10952944
AbstractArticlePDF–1.1M
6.
A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency
Garrett Bullock, Gary S. Johnson, Savannah G. Pattridge, Tendai Mhlanga-Mutangadura, Juyuan Guo, James Cook, Rebecca S. Campbell, Charles H. Vite, Martin L. Katz
Genes (Basel) 2023 Sep; 14(9): 1746. Published online 2023 Aug 31. doi: 10.3390/genes14091746
PMCID:
PMC10531151
AbstractArticlePDF–30M
7.
Gene therapy ameliorates spontaneous seizures associated with cortical neuron loss in a Cln2R207X mouse model
Keigo Takahashi, Elizabeth M. Eultgen, Sophie H. Wang, Nicholas R. Rensing, Hemanth R. Nelvagal, Joshua T. Dearborn, Olivier Danos, Nicholas Buss, Mark S. Sands, Michael Wong, Jonathan D. Cooper
J Clin Invest. 2023 Jun 15; 133(12): e165908. Published online 2023 Jun 15. doi: 10.1172/JCI165908
PMCID:
PMC10266778
AbstractArticlePDF–3.9M
8.
The Effect of Manganese Exposure in Atp13a2-deficient Mice
Sheila M. Fleming, Nicholas A. Santiago, Elizabeth J. Mullin, Shanta Pamphile, Swagata Karkare, Andrew Lemkuhl, Osunde R. Ekhator, Stephen C. Linn, John G. Holden, Diana S. Aga, Jerome A. Roth, Benjamin Liou, Ying Sun, Gary E. Shull, Patrick J. Schultheis
Neurotoxicology. Author manuscript; available in PMC 2023 May 12.
Published in final edited form as: Neurotoxicology. 2018 Jan; 64: 256–266. Published online 2017 Jun 6. doi: 10.1016/j.neuro.2017.06.005
PMCID:
PMC10178982
AbstractArticlePDF–958K
9.
A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes
Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Jessica C. Sieren, Hans J. Johnson, Kevin Knoernschild, Xiaojun Wang, Frank A. Rohret, Christopher S. Rogers, David A. Pearce, Jon J. Brudvig, Jill M. Weimer
Neurotherapeutics. 2022 Oct; 19(6): 1905–1919. Published online 2022 Sep 13. doi: 10.1007/s13311-022-01296-7
PMCID:
PMC9723024
AbstractArticlePDF–5.0M
10.
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee A. McKnight, Britt Johnson, Ana Morales, Sara L. Bristow, Tiffany Yar Pang, Jessica Cohen‐Pfeffer, Emanuela Izzo, Raman Sankar, Sookyong Koh, Elaine C. Wirrell, John J. Millichap, Swaroop Aradhya
Epilepsia. 2022 Jul; 63(7): e68–e73. Published online 2022 May 10. doi: 10.1111/epi.17269
PMCID:
PMC9545603
AbstractArticlePDF–413K
11.
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease
Anna Scotto Rosato, Einar K Krogsaeter, Dawid Jaślan, Carla Abrahamian, Sandro Montefusco, Chiara Soldati, Barbara Spix, Maria Teresa Pizzo, Giuseppina Grieco, Julia Böck, Amanda Wyatt, Daniela Wünkhaus, Marcel Passon, Marc Stieglitz, Marco Keller, Guido Hermey, Sandra Markmann, Doris Gruber‐Schoffnegger, Susan Cotman, Ludger Johannes, Dennis Crusius, Ulrich Boehm, Christian Wahl‐Schott, Martin Biel, Franz Bracher, Elvira De Leonibus, Elena Polishchuk, Diego L Medina, Dominik Paquet, Christian Grimm
EMBO Mol Med. 2022 Sep; 14(9): e15377. Published online 2022 Aug 5. doi: 10.15252/emmm.202115377
PMCID:
PMC9449600
AbstractArticlePDF–26M
12.
Converging roles of PSENEN/PEN2 and CLN3 in the autophagy-lysosome system
Marcel Klein, Abuzar Kaleem, Sandra Oetjen, Daniela Wünkhaus, Lars Binkle, Sandra Schilling, Milena Gjorgjieva, Ralf Scholz, Doris Gruber-Schoffnegger, Stephan Storch, Stefan Kins, Gerard Drewes, Sabine Hoffmeister-Ullerich, Dietmar Kuhl, Guido Hermey
Autophagy. 2022; 18(9): 2068–2085. Published online 2021 Dec 29. doi: 10.1080/15548627.2021.2016232
PMCID:
PMC9397472
AbstractArticlePDF–4.5M
13.
Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis
Elizabeth J. Meiman, Grace Robinson Kick, Cheryl A. Jensen, Joan R. Coates, Martin L. Katz
Dev Neurobiol. 2022 May-Jun; 82(4): 326–344. Published online 2022 Apr 28. doi: 10.1002/dneu.22878
PMCID:
PMC9119968
AbstractArticlePDF–7.9M
14.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
Int J Mol Sci. 2022 Apr; 23(8): 4294. Published online 2022 Apr 13. doi: 10.3390/ijms23084294
PMCID:
PMC9032189
AbstractArticlePDF–3.6M
15.
Regulated control of gene therapies by drug-induced splicing
Alex Mas Monteys, Amiel A. Hundley, Paul T. Ranum, Luis Tecedor, Amy Muehlmatt, Euyn Lim, Dmitriy Lukashev, Rajeev Sivasankaran, Beverly L. Davidson
Nature. Author manuscript; available in PMC 2022 Mar 30.
Published in final edited form as: Nature. 2021 Aug; 596(7871): 291–295. Published online 2021 Jul 28. doi: 10.1038/s41586-021-03770-2
Correction in:
Nature. 2022 Feb 1
PMCID:
PMC8966400
AbstractArticlePDF–3.6M
16.
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience
R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro
Orphanet J Rare Dis. 2022; 17: 13. Published online 2022 Jan 10. doi: 10.1186/s13023-021-02162-z
PMCID:
PMC8751374
AbstractArticlePDF–842K
17.
The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease
Juan Yang, Xiaoting Ding, Shasha Meng, Jinhua Cai, Weihui Zhou
Mol Genet Genomic Med. 2021 Oct; 9(10): e1777. Published online 2021 Jul 31. doi: 10.1002/mgg3.1777
PMCID:
PMC8580076
AbstractArticlePDF–1.1M
18.
Lysosomal protein thermal stability does not correlate with cellular half-life: Global observations and a case study of tripeptidyl-peptidase 1
Aaron M. Collier, Yuliya Nemtsova, Narendra Kuber, Whitney Banach-Petrosky, Anurag Modak, David E. Sleat, Vikas Nanda, Peter Lobel
Biochem J. Author manuscript; available in PMC 2021 Sep 15.
Published in final edited form as: Biochem J. 2020 Feb 14; 477(3): 727–745. doi: 10.1042/BCJ20190874
PMCID:
PMC8442665
AbstractArticlePDF–1.2M
19.
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
Kimberly Gall, Emanuela Izzo, Eija H. Seppälä, Kirsi Alakurtti, Lotta Koskinen, Inka Saarinen, Akashdeep Singh, Samuel Myllykangas, Juha Koskenvuo, Tero-Pekka Alastalo
PLoS One. 2021; 16(9): e0255933. Published online 2021 Sep 1. doi: 10.1371/journal.pone.0255933
PMCID:
PMC8409681
AbstractArticlePDF–672K
20.
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy
Dorothy A. Thompson, Siân E. Handley, Robert H. Henderson, Oliver R. Marmoy, Paul Gissen
Eye (Lond) 2021 Sep; 35(9): 2438–2448. Published online 2021 Jul 16. doi: 10.1038/s41433-021-01594-y
Correction in:
Eye (Lond). 2021 Oct; 35(10): 2912.
PMCID:
PMC8377094
AbstractArticlePDF–1.4M

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