Works matching Batten disease

Results: 370

Remote Assessment of Cognitive Function in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease).

Published in:

Journal of Child Neurology, 2016, v. 31, n. 4, p. 481, doi. 10.1177/0883073815600863

By:

Ragbeer, Shayne N.;
Augustine, Erika F.;
Mink, Jonathan W.;
Thatcher, Alyssa R.;
Vierhile, Amy E.;
Adams, Heather R.

Publication type:

Article

Considerations for the Treatment of Infantile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease).

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1151, doi. 10.1177/0883073813495960

By:

Sands, Mark S.

Publication type:

Article

Large Animal Models for Batten Disease: A Review.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1123, doi. 10.1177/0883073813493666

By:

Weber, Krystal;
Pearce, David A.

Publication type:

Article

N-acetylcysteine normalizes the urea cycle and DNA repair in cells from patients with Batten disease.

Published in:

Cell Biochemistry & Function, 2012, v. 30, n. 8, p. 677, doi. 10.1002/cbf.2849

By:

Kim, June-Bum;
Lim, Nary;
Kim, Sung-Jo;
Heo, Tae-Hwe

Publication type:

Article

Recent Biochemical and Genetic Advances in Our Understanding of Batten's Disease (Ceroid-Lipofuscinosis).

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 339, doi. 10.1159/000112183

By:

Hall, Nicholas A.;
Lake, Brian D.;
Patrick, A. Desmond

Publication type:

Article

Molecular mechanisms of the juvenile form of Batten disease: important role of MAPK signaling pathways (ERK1/ERK2, JNK and p38) in pathogenesis of the malady.

Published in:

Biology Direct, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13062-018-0212-y

By:

Shematorova, Elena K.;
Shpakovski, Dmitry G.;
Chernysheva, Anna D.;
Shpakovski, George V.

Publication type:

Article

Altered Flurothyl Seizure Induction Latency, Phenotype, and Subsequent Mortality in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis/Batten Disease.

Published in:

Epilepsia (Series 4), 2002, v. 43, n. 10, p. 1137, doi. 10.1046/j.1528-1157.2002.16002.x

By:

Kriscenski-Perry, Elizabeth;
Applegate, Craig D.;
Serour, Andrew;
Mhyre, Timothy R.;
Leonardo, Christopher C.;
Pearce, David A.

Publication type:

Article

Batten disease and perioperative complications: a retrospective descriptive study.

Published in:

Journal of Anesthesia, 2020, v. 34, n. 3, p. 342, doi. 10.1007/s00540-020-02747-1

By:

Yamaguchi, Yoshikazu;
Lyman, Reagan;
De Los Reyes, Emily;
Kim, Stephani S.;
Uffman, Joshua C.;
Tobias, Joseph D.

Publication type:

Article

Diagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens.

Published in:

Ultrastructural Pathology, 2006, v. 30, n. 5, p. 373, doi. 10.1080/01913120500406566

By:

Anderson, G. W.;
Smith, V. V.;
Brooke, I.;
Malone, M.;
Sebire, N. J.

Publication type:

Article

Caspase 1 activity influences juvenile Batten disease (CLN3) pathogenesis.

Published in:

Journal of Neurochemistry, 2019, v. 148, n. 5, p. 652, doi. 10.1111/jnc.14480

By:

Burkovetskaya, Maria;
Bosch, Megan E.;
Karpuk, Nikolay;
Fallet, Rachel;
Kielian, Tammy

Publication type:

Article

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Published in:

2018

By:

Sheth, Jayesh;
Mistri, Mehul;
Bhavsar, Riddhi;
Pancholi, Dhairya;
Kamate, Mahesh;
Gupta, Neerja;
Kabra, Madhulika;
Mehta, Sanjiv;
Nampoothiri, Sheela;
Thakker, Arpita;
Jain, Vivek;
Shah, Raju;
Sheth, Frenny

Publication type:

journal article

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03747-8

By:

Mole, Sara E.;
Gissen, Paul;
Nordstrom, Shannon;
Wait, Suzanne;
Allen, Louise;
Antonini, Mathilda;
Brownnutt, Liz;
Brown, Richard;
Cole, Barbara;
Gibbon, Frances;
Henderson, Robert H.;
Kenrick, Sarah;
Sisic, Zlatko;
Thompson, Bob;
Nightingale, Joanna

Publication type:

Article

Neurobehavioral Features and Natural History of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease).

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1128, doi. 10.1177/0883073813494813

By:

Adams, Heather R.;
Mink, Jonathan W.

Publication type:

Article

Batten Disease: Clinical Aspects, Molecular Mechanisms, Translational Science, and Future Directions.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 9, p. 1074, doi. 10.1177/0883073813493665

By:

Dolisca, Sarah-Bianca;
Mehta, Mitali;
Pearce, David A.;
Mink, Jonathan W.;
Maria, Bernard L.

Publication type:

Article

Neuropsychological Symptoms of Juvenile-Onset Batten Disease: Experiences From 2 Studies.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 5, p. 621, doi. 10.1177/0883073807302603

By:

Adams, Heather R.;
Kwon, Jennifer;
Marshall, Frederick J.;
de Blieck, Elisabeth A.;
Pearce, David A.;
Mink, Jonathan W.

Publication type:

Article

Manganese in manganism, Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, and Batten disease: A narrative review.

Published in:

2017

By:

Proudfoot, Owen

Publication type:

journal article

Altered arginine metabolism in the central nervous system (CNS) of the Cln3<sup>− /−</sup> mouse model of juvenile Batten disease.

Published in:

Neuropathology & Applied Neurobiology, 2009, v. 35, n. 2, p. 189, doi. 10.1111/j.1365-2990.2008.00984.x

By:

Chan, C.-H.;
Ramirez-Montealegre, D.;
Pearce, D. A.

Publication type:

Article

As Batten Disease Disconnects, Music Therapy Connects: A Case Study.

Published in:

Australian Journal of Music Therapy, 2021, v. 32, n. 2, p. 134

By:

Breaden, Matthew;
Anthony, Dave

Publication type:

Article

The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease.

Published in:

Acta Neuropathologica, 1972, v. 21, n. 2, p. 169, doi. 10.1007/BF00687571

By:

Haelst, U.;
Gabreëls, F.

Publication type:

Article

Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment.

Published in:

Frontiers in Neuroscience, 2022, p. 1, doi. 10.3389/fnins.2022.834780

By:

Rechtzigel, Mitchell J.;
Meyerink, Brandon L.;
Leppert, Hannah;
Johnson, Tyler B.;
Cain, Jacob T.;
Ferrandino, Gavin;
May, Danielle G.;
Roux, Kyle J.;
Brudvig, Jon J.;
Weimer, Jill M.

Publication type:

Article

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 8055, doi. 10.3390/ijms21218055

By:

Shematorova, Elena K.;
Shpakovski, George V.

Publication type:

Article

A Knock-In Reporter Model of Batten Disease.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 37, p. 9826, doi. 10.1523/JNEUROSCI.1710-07.2007

By:

Eliason, Steven L.;
Stein, Colleen S.;
Qinwen Mao;
Tecedor, Luis;
Song-Lin Ding;
Gaines, D. Meredith;
Davidson, Beverly L.

Publication type:

Article

Comparative analysis of the gut microbiota composition in the Cln1R151X and Cln2R207X mouse models of Batten disease and in three wild-type mouse strains.

Published in:

Archives of Microbiology, 2021, v. 203, n. 1, p. 85, doi. 10.1007/s00203-020-02007-6

By:

Parker, Camille;
Zhao, Jing;
Pearce, David A.;
Kovács, Attila D.

Publication type:

Article

Extracellular Vesicles Released by Genetically Modified Macrophages Activate Autophagy and Produce Potent Neuroprotection in Mouse Model of Lysosomal Storage Disorder, Batten Disease.

Published in:

Cells (2073-4409), 2023, v. 12, n. 11, p. 1497, doi. 10.3390/cells12111497

By:

El-Hage, Nazira;
Haney, Matthew J.;
Zhao, Yuling;
Rodriguez, Myosotys;
Wu, Zhanhong;
Liu, Mori;
Swain, Carson J.;
Yuan, Hong;
Batrakova, Elena V.

Publication type:

Article

Extracellular Vesicles as Drug Carriers for Enzyme Replacement Therapy to Treat CLN2 Batten Disease: Optimization of Drug Administration Routes.

Published in:

Cells (2073-4409), 2020, v. 9, n. 5, p. 1273, doi. 10.3390/cells9051273

By:

Haney, Matthew J.;
Zhao, Yuling;
Jin, Yeon S.;
Batrakova, Elena V.

Publication type:

Article

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights.

Published in:

Degenerative Neurological & Neuromuscular Disease, 2016, v. 6, p. 73, doi. 10.2147/DNND.S111967

By:

Ostergaard, John R.

Publication type:

Article

Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.

Published in:

Acta Ophthalmologica (1755375X), 2021, v. 99, n. 4, p. 397, doi. 10.1111/aos.14630

By:

Kuper, Willemijn F. E.;
Talsma, Herman E.;
Schooneveld, Mary J.;
Pott, Jan Willem R.;
Huijgen, Barbara C. H.;
Wit, Gerard C.;
Hasselt, Peter M.;
Genderen, Maria M.

Publication type:

Article

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

Published in:

FEBS Letters, 2008, v. 582, n. 7, p. 1019, doi. 10.1016/j.febslet.2008.02.049

By:

Nugent, Timothy;
Mole, Sara E.;
Jones, David T.

Publication type:

Article

Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease

Published in:

FEBS Letters, 2003, v. 555, n. 2, p. 351, doi. 10.1016/S0014-5793(03)01274-2

By:

Mao, Qinwen;
Xia, Haibin;
Davidson, Beverly L.

Publication type:

Article

Membrane topology of CLN3, the protein underlying Batten disease

Published in:

FEBS Letters, 2003, v. 541, n. 1-3, p. 40, doi. 10.1016/S0014-5793(03)00284-9

By:

Mao, Qinwen;
Foster, Brian J.;
Xia, Haibin;
Davidson, Beverly L.

Publication type:

Article

BATTEN DISEASE (CLN2 TYPE) – FIGHTING FOR A STEP, A WORD AND A SMILE; CASE REPORT.

Published in:

Lijecnicki Vjesnik, 2023, v. 145, p. 78, doi. 10.26800/LV-145-supl3-4

By:

Palac, Leon;
Oroz, Katarina;
Bišćanin, Alen

Publication type:

Article

Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.

Published in:

Epilepsia (Series 4), 2022, v. 63, n. 7, p. e68, doi. 10.1111/epi.17269

By:

Leal‐Pardinas, Fernanda;
Truty, Rebecca;
McKnight, Dianalee A.;
Johnson, Britt;
Morales, Ana;
Bristow, Sara L.;
Yar Pang, Tiffany;
Cohen‐Pfeffer, Jessica;
Izzo, Emanuela;
Sankar, Raman;
Koh, Sookyong;
Wirrell, Elaine C.;
Millichap, John J.;
Aradhya, Swaroop

Publication type:

Article

Parental experiences of having a child with CLN3 disease (juvenile Batten disease) and how these experiences relate to family resilience.

Published in:

Child: Care, Health & Development, 2022, v. 48, n. 5, p. 842, doi. 10.1111/cch.12993

By:

Krantz, Mattias;
Malm, Emma;
Darin, Niklas;
Sofou, Kalliopi;
Savvidou, Antri;
Reilly, Colin;
Boström, Petra

Publication type:

Article

Lectin histochemistry in brains with juvenile form of neuronal ceroid-lipofuscinosis (Batten disease).

Published in:

Acta Neuropathologica, 1990, v. 80, n. 3, p. 274, doi. 10.1007/BF00294645

By:

Wisniewski, K.;
Maslinska, D.

Publication type:

Article

Evaluation of Neurodegeneration in a Mouse Model of Infantile Batten Disease by Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy.

Published in:

Neurodegenerative Diseases, 2012, v. 9, n. 4, p. 159, doi. 10.1159/000334838

By:

Munasinghe, Jeeva;
Zhang, Zhongjian;
Kong, Eryan;
Heffer, Alison;
Mukherjee, Anil B.

Publication type:

Article

An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease.

Published in:

Journal of Neurochemistry, 2021, v. 157, n. 3, p. 764, doi. 10.1111/jnc.15285

By:

Best, Hannah L.;
Clare, Alison J.;
McDonald, Kirstin O.;
Wicky, Hollie E.;
Hughes, Stephanie M.

Publication type:

Article

Early changes in gene expression in two models of Batten disease

Published in:

FEBS Letters, 2003, v. 538, n. 1-3, p. 207, doi. 10.1016/S0014-5793(03)00162-5

By:

Elshatory, Yasser;
Brooks, Andrew I.;
Chattopadhyay, Subrata;
Curran, Timothy M.;
Gupta, Praveena;
Ramalingam, Vijay;
Hofmann, Sandra L.;
Pearce, David A.

Publication type:

Article

Cell death pathways in juvenile Batten disease.

Published in:

Apoptosis, 2005, v. 10, n. 5, p. 973, doi. 10.1007/s10495-005-0733-6

By:

Persaud-Sawin, D.-A.;
Boustany, R-M.N.

Publication type:

Article

CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3−/− mice and in Batten disease.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 8, p. 1748, doi. 10.1093/brain/awh195

By:

Srinivas B. Narayan;
Johanne V. Pastor;
Hannah M. Mitchison;
Michael J. Bennett

Publication type:

Article

Batten disease: a rare case report and review of literature.

Published in:

2016

By:

Jain, Deepak;
Aggarwal, H. K.;
Chhabra, Pulkit;
Rao, Avinash

Publication type:

Case Study

Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor.

Published in:

Traffic, 2008, v. 9, n. 11, p. 1905, doi. 10.1111/j.1600-0854.2008.00807.x

By:

Metcalf, Daniel J;
Calvi, Alessandra A;
Seaman, Matthew NJ;
Mitchison, Hannah M;
Cutler, Daniel F

Publication type:

Article

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39643-7

By:

Calcagni', Alessia;
Staiano, Leopoldo;
Zampelli, Nicolina;
Minopoli, Nadia;
Herz, Niculin J.;
Di Tullio, Giuseppe;
Huynh, Tuong;
Monfregola, Jlenia;
Esposito, Alessandra;
Cirillo, Carmine;
Bajic, Aleksandar;
Zahabiyon, Mahla;
Curnock, Rachel;
Polishchuk, Elena;
Parkitny, Luke;
Medina, Diego Luis;
Pastore, Nunzia;
Cullen, Peter J.;
Parenti, Giancarlo;
De Matteis, Maria Antonietta

Publication type:

Article

CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

Published in:

2006

By:

Narayan SB;
Rakheja D;
Tan L;
Pastor JV;
Bennett MJ

Publication type:

Journal Article

Clinical and magnetic resonance imaging findings in batten disease: Analysis of the major mutation (1.02-kb deletion).

Published in:

Annals of Neurology, 1997, v. 42, n. 5, p. 799, doi. 10.1002/ana.410420517

By:

Järvelä, Irma;
Autti, Taina;
Lamminranta, Sirkka;
Åberg, Laura;
Raininko, Raili;
Santavuori, Pirkko

Publication type:

Article

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease.

Published in:

Nature Genetics, 1999, v. 22, n. 1, p. 55, doi. 10.1038/8861

By:

Pearce, David A.;
Ferea, Tracy;
Nosel, Seth A.;
Das, Biswadip;
Sherman, Fred

Publication type:

Article

Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep.

Published in:

Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 862, doi. 10.1093/brain/awv026

By:

Perentos, Nicholas;
Martins, Amadeu Q.;
Watson, Thomas C.;
Bartsch, Ullrich;
Mitchell, Nadia L.;
Palmer, David N.;
Jones, Matthew W.;
Morton, A. Jennifer

Publication type:

Article

A Legacy For and Beyond Batten Disease.

Published in:

Bio-IT World, 2010, v. 9, n. 2, p. 37

By:

DAVIES, KEVIN

Publication type:

Article

Changes in motor behavior, neuropathology, and gut microbiota of a Batten disease mouse model following administration of acidified drinking water.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51488-z

By:

Johnson, Tyler B.;
Langin, Logan M.;
Zhao, Jing;
Weimer, Jill M.;
Pearce, David A.;
Kovács, Attila D.

Publication type:

Article

The yeast Batten disease orthologue Btn1 controls endosome--Golgi retrograde transport via SNARE assembly.

Published in:

Journal of Cell Biology, 2011, v. 195, n. 2, p. 203, doi. 10.1083/jcb.201102115

By:

Kama, Rachel;
Kanneganti, Vydehi;
Ungermann, Christian;
Gerst, Jeffrey E.

Publication type:

Article

Mutant Batten Disease Protein Says “No” to Unsaturated Fats.

Published in:

Epilepsy Currents, 2007, v. 7, n. 3, p. 82, doi. 10.1111/j.1535-7511.2007.00179.x

By:

Gallagher, Martin J.

Publication type:

Article