Results 51 to 60 of about 474 (120)

Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis

eLife, 2017
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulting in widespread central nervous system dysfunction and premature death ...
Benedikt Grünewald, Maren D Lange, Christian Werner, Aet O'Leary, Andreas Weishaupt, Sandy Popp, David A Pearce, Heinz Wiendl, Andreas Reif, Hans C Pape, Klaus V Toyka, Claudia Sommer, Christian Geis   +12 more
doaj   +1 more source

TRPML Cation Channels in Inflammation and Immunity

Frontiers in Immunology, 2020
Background: In 1883, Ilya Mechnikov discovered phagocytes and established the concept of phagocytosis by macrophages. In 1908, he was awarded the Nobel Prize in Physiology/Medicine for his findings, which laid the foundations for today's understanding of
Barbara Spix, Yu-Kai Chao, Carla Abrahamian, Cheng-Chang Chen, Christian Grimm   +4 more
doaj   +1 more source

Modulating membrane fluidity corrects Batten disease phenotypes in vitro and in vivo

Neurobiology of Disease, 2018
The neuronal ceroid lipofuscinoses are a class of inherited neurodegenerative diseases characterized by the accumulation of autofluorescent storage material. The most common neuronal ceroid lipofuscinosis has juvenile onset with rapid onset blindness and
Mark L. Schultz, Luis Tecedor, Elena Lysenko, Shyam Ramachandran, Colleen S. Stein, Beverly L. Davidson   +5 more
doaj   +1 more source

Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early‐onset cases identifies novel Alzheimer's disease loci

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction Less than 10% of early‐onset Alzheimer's disease (EOAD) is explained by known mutations. Methods We conducted genetic linkage analysis of 68 well‐phenotyped Caribbean Hispanic families without clear inheritance patterns or mutations in APP ...
Rong Cheng, Min Tang, Izri Martinez, Temitope Ayodele, Penelope Baez, Dolly Reyes‐Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne Jimenez‐Velazquez, Joseph H. Lee, Gary W. Beecham, Christiane Reitz   +11 more
doaj   +1 more source

A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes

Disease Models & Mechanisms, 2023
Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Xiaojun Wang, Jimin Han, David A. Pearce, Ruchira Singh, Arlene V. Drack, Wanda Pfeifer, Christopher S. Rogers, Jon J. Brudvig, Jill M. Weimer   +11 more
doaj   +1 more source

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

Acta Neuropathologica Communications, 2017
The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically occurs early in disease progression and ...
Lotta Parviainen, Sybille Dihanich, Greg W. Anderson, Andrew M. Wong, Helen R. Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon J. Heales, Hannah M. Mitchison, Brenda P. Williams, Jonathan D. Cooper   +12 more
doaj   +1 more source

THE U.S. FOREIGN LANGUAGE DEFICIT, LANGUAGE ENTERPRISE, AND LANGUAGES FOR SPECIFIC PURPOSES [PDF]

Journal of Languages for Specific Purposes, 2015
At present, there is a gap between the need for foreign language skills and their availability in the U.S. marketplace, resulting in a monolingual American in a multilingual global workplace. The Language Enterprise, a partnership of government, academia,
Kathleen Stein-Smith
doaj  

Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN)

Journal of Neurodevelopmental Disorders
Background We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of “duration” processing.
Tufikameni Brima, Edward G. Freedman, Kevin D. Prinsloo, Erika F. Augustine, Heather R. Adams, Kuan Hong Wang, Jonathan W. Mink, Luke H. Shaw, Emma P. Mantel, John J. Foxe   +9 more
doaj   +1 more source

Activation of PPARα Exhibits Therapeutic Efficacy in a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis. [PDF]

J Neurosci, 2023
Jana M, Dutta D, Poddar J, Pahan K.
europepmc   +1 more source

TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease. [PDF]

EMBO Mol Med, 2022
Scotto Rosato A, Krogsaeter EK, Jaślan D, Abrahamian C, Montefusco S, Soldati C, Spix B, Pizzo MT, Grieco G, Böck J, Wyatt A, Wünkhaus D, Passon M, Stieglitz M, Keller M, Hermey G, Markmann S, Gruber-Schoffnegger D, Cotman S, Johannes L, Crusius D, Boehm U, Wahl-Schott C, Biel M, Bracher F, De Leonibus E, Polishchuk E, Medina DL, Paquet D, Grimm C.   +29 more
europepmc   +1 more source