Results 101 to 110 of about 2,376 (188)

Supplemental Table4 - Supplemental material for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model

, 2019
Supplemental material, Supplemental Table4 for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model by Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B.
Judith G. Henry (6629468), Miriam S. Domowicz (6629462), Jorge Andrade (530975), Wen-Ching Chan (3170946), Christopher B. Ware (6629471), Glyn Dawson (1954762), Nancy B. Schwartz (6629474), Patricia Claudio-Vázquez (6629465)   +7 more
core   +1 more source

Supplemental Table2 - Supplemental material for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model

, 2019
Supplemental material, Supplemental Table2 for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model by Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B.
Judith G. Henry (6629468), Miriam S. Domowicz (6629462), Jorge Andrade (530975), Wen-Ching Chan (3170946), Christopher B. Ware (6629471), Glyn Dawson (1954762), Nancy B. Schwartz (6629474), Patricia Claudio-Vázquez (6629465)   +7 more
core   +1 more source

Supplemental Table5 - Supplemental material for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model

, 2019
Supplemental material, Supplemental Table5 for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model by Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B.
Judith G. Henry (6629468), Miriam S. Domowicz (6629462), Jorge Andrade (530975), Wen-Ching Chan (3170946), Christopher B. Ware (6629471), Glyn Dawson (1954762), Nancy B. Schwartz (6629474), Patricia Claudio-Vázquez (6629465)   +7 more
core   +1 more source

Cln5-deficiency in mice leads to microglial activation, defective myelination and changes in lipid metabolism

Neurobiology of Disease, 2012
CLN5 disease, late infantile variant phenotype neuronal ceroid lipofuscinosis, is a severe neurodegenerative disease caused by mutations in the CLN5 gene, which encodes a lysosomal protein of unknown function.
Mia-Lisa Schmiedt, Tea Blom, Tomas Blom, Outi Kopra, Andrew Wong, Carina von Schantz-Fant, Elina Ikonen, Mervi Kuronen, Matti Jauhiainen, Jonathan D. Cooper, Anu Jalanko   +10 more
doaj   +1 more source

Supplemental Table1 - Supplemental material for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model

, 2019
Supplemental material, Supplemental Table1 for Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses Mouse Model by Miriam S. Domowicz, Wen-Ching Chan, Patricia Claudio-Vázquez, Judith G. Henry, Christopher B.
Judith G. Henry (6629468), Miriam S. Domowicz (6629462), Jorge Andrade (530975), Wen-Ching Chan (3170946), Christopher B. Ware (6629471), Glyn Dawson (1954762), Nancy B. Schwartz (6629474), Patricia Claudio-Vázquez (6629465)   +7 more
core   +1 more source

Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction

Cells
CLN8 and other neuronal ceroid lipofuscinoses (NCLs) often lead to cognitive decline, emotional disturbances, and social deficits, worsening with disease progression.
Rosario Licitra, Stefania Della Vecchia, Lorenzo Santucci, Rachele Vivarelli, Sara Bernardi, Filippo M. Santorelli, Maria Marchese   +6 more
doaj   +1 more source

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. [PDF]

Autophagy, 2023
Wang Y, Wang H, Wang C.
europepmc   +1 more source

Walsh & Hoyt: Neuronal Ceroid Lipofuscinoses

, 2005
Neuronal ceroid lipofuscinosis is characterized by brain and retinal atrophy with selective necrosis of neurons, leading to progressive mental and motor deterioration. Visual loss is an important symptom that is prominent among children and less so among
Michael X. Repka, MD
core  

Molecular and cellular processes underlying Unverricht-Lundborg disease—prospects for early interventions and a cure

Exploration of Neuroscience
A short overview of the main features of progressive myoclonus epilepsies (PMEs), such as Lafora disease (LD), neuronal ceroid lipofuscinoses (NCLs), and myoclonus epilepsy with ragged-red fibers (MERRF) is given.
Eva Žerovnik
doaj   +1 more source

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses. [PDF]

Sci Adv, 2022
Wang Y, Cao X, Liu P, Zeng W, Peng R, Shi Q, Feng K, Zhang P, Sun H, Wang C, Wang H.   +10 more
europepmc   +1 more source