Results 11 to 20 of about 474 (120)

Evidence for aberrant astrocyte hemichannel activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). [PDF]

PLoS ONE, 2014
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessive mutation in CLN3 that leads to vision loss, progressive cognitive and motor decline, and premature death.
Maria Burkovetskaya, Nikolay Karpuk, Juan Xiong, Megan Bosch, Michael D Boska, Hideyuki Takeuchi, Akio Suzumura, Tammy Kielian   +7 more
doaj   +5 more sources

The CLN3 gene and protein: What we know

Molecular Genetics & Genomic Medicine, 2019
Background One of the most important steps taken by Beyond Batten Disease Foundation in our quest to cure juvenile Batten (CLN3) disease is to understand the State of the Science. We believe that a strong understanding of where we are in our experimental
Myriam Mirza, Anna Vainshtein, Alberto DiRonza, Uma Chandrachud, Luke J. Haslett, Michela Palmieri, Stephan Storch, Janos Groh, Niv Dobzinski, Gennaro Napolitano, Carolin Schmidtke, Danielle M. Kerkovich   +11 more
doaj   +2 more sources

A timeline of symptom onset and disease progression in CLN3 disease [PDF]

Orphanet Journal of Rare Diseases
Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in early adulthood ...
Ineka T. Whiteman, Anthony L. Cook, Erika F. Augustine, Aidan D. Bindoff, Alexandra M. Johnson, Heather L. Mason, Jonathan W. Mink, John R. Østergaard, Angela Schulz, Jennifer Vermilion, Amy Vierhile, Heather R. Adams   +11 more
doaj   +2 more sources

TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells [PDF]

Scientific Reports
Mutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models.
D. Wünkhaus, R. Tang, K. Nyame, N. N. Laqtom, M. Schweizer, A. Scotto Rosato, E. K. Krogsæter, C. Wollnik, M. Abu-Remaileh, C. Grimm, G. Hermey, R. Kuhn, D. Gruber-Schoffnegger, S. Markmann   +13 more
doaj   +2 more sources

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology [PDF]

Orphanet Journal of Rare Diseases
Background CLN3 disease, also called Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), or Batten disease, is an ultra‑rare, neurodegenerative lysosomal storage disorder generally affecting individuals during the first decade of life.
Jonathan W. Mink, Heather R. Adams, Rebecca Ahrens-Nicklas, Brian Nauheimer Andersen, Erika Augustine, Rose‑Mary Boustany, Jonathan D. Cooper, Alex Levin, Paul Gissen, Minna Laine, Heather L. Mason, Sara E. Mole, Miriam Nickel, John R. Ostergaard, Lori Sikorra, Lauren Treat, Ineka T. Whiteman, Ruth Williams, Angela Schulz   +18 more
doaj   +2 more sources

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. [PDF]

PLoS ONE, 2011
Variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), caused by CLN6 mutation, and juvenile neuronal ceroid lipofuscinosis (JNCL), caused by CLN3 mutation, share clinical and pathological features, including lysosomal accumulation of ...
Yi Cao, John F Staropoli, Sunita Biswas, Janice A Espinola, Marcy E MacDonald, Jong-Min Lee, Susan L Cotman   +6 more
doaj   +5 more sources

A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1. [PDF]

J Inherit Metab Dis, 2023
Abstract Late‐infantile neuronal ceroid lipofuscinosis (LINCL) and juvenile neuronal ceroid lipofuscinosis (JNCL) are inherited neurodegenerative diseases caused by mutations in the genes encoding lysosomal proteins tripeptidyl peptidase 1 (TPP1) and CLN3 protein, respectively.
Sleat DE, Banach-Petrosky W, Larrimore KE, Nemtsova Y, Wiseman JA, Najafi A, Johnson D, Poole TA, Takahashi K, Cooper JD, Lobel P.   +10 more
europepmc   +2 more sources

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH) [PDF]

Orphanet Journal of Rare Diseases
Background Recurrent non-epileptic episodes resembling paroxysmal sympathetic hyperactivity (PSH) have been observed in adolescents with Juvenile Ceroid Lipofuscinosis (CLN3-disease) and a possible association to an autonomic dysfunction has been ...
C. Baekmann, M. M. Handrup, H. Molgaard, C. Ejerskov, H. K. Jensen, J. R. Ostergaard   +5 more
doaj   +2 more sources

Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3−/− Mice [PDF]

Frontiers in Neurology, 2019
Batten disease, or juvenile NCL, is a fatal neurodegenerative disorder that occurs due to mutations in the CLN3 gene. Because the function of CLN3 remains unclear, experimental therapies for JNCL have largely concentrated upon the targeting of downstream
Marta A. Tarczyluk-Wells, Christoph Salzlechner, Allison R. Najafi, Ming J. Lim, Ming J. Lim, David Smith, Frances M. Platt, Brenda P. Williams, Jonathan D. Cooper, Jonathan D. Cooper, Jonathan D. Cooper   +10 more
doaj   +2 more sources

Mimickers of hydroxychloroquine retinal toxicity. [PDF]

Clin Exp Ophthalmol
Abstract Hydroxychloroquine (HCQ) retinal toxicity is an important entity that can be challenging to differentiate from its mimickers. Bull's eye maculopathy is the classical presentation of HCQ retinopathy; however, its differential includes several drug‐related retinal toxicities, inherited retinal disorders, and systemic conditions with associated ...
Jones P, Kalra G, Al-Sheikh M, Chhablani J.   +3 more
europepmc   +2 more sources