Results 41 to 50 of about 474 (120)
PLoS ONE, 2014 The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, severe neurodegenerative disorders also known as Batten disease. Juvenile NCL (JNCL) is caused by recessive loss-of-function mutations in CLN3, which encodes a transmembrane protein that ...
Robert J Huber +2 more
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Arquivos de Neuro-Psiquiatria, 2011 OBJECTIVE: Juvenile Neuronal Ceroid-Lipofuscinosis (JNCL, CLN 3, Batten Disease) (OMIM #204200) belongs to the most common group of neurodegenerative disorders of childhood.
Eugênia Ribeiro Valadares +9 more
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Lamotrigine Therapy in Neuronal Lipofuscinosis
Pediatric Neurology Briefs, 1999 Lamotrigine (LTG) long-term anticonvulsant therapy was evaluated in 29 patients, aged 6-28 years (mean, 14 years), with juvenile neuronal ceroid lipofuscinosis (JNCL), followed for 1-6 years (mean, 3 years) at the Hospital for Children and Adolescents ...
J Gordon Millichap
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Neuronal Ceroid Lipofuscinosis—Concepts, Classification, and Avenues for Therapy
CNS Neuroscience &Therapeutics, Volume 31, Issue 2, February 2025.This review comprehensively examined the pathogenic genes associated with various NCL subtypes, elucidating their roles, clinical presentations, corresponding mouse models, and the advances in clinical study of potential therapeutics. In particular, we clarified the potential of novel microglial cell replacement therapies in NCLs, providing hope for ...
Yuheng Zhang +4 more
wiley +1 more source
Neurobiology of Disease, 2017 Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a fatal lysosomal storage disease caused by autosomal recessive mutations in CLN3. JNCL is typified by progressive neurodegeneration that has been suggested to occur from excessive excitatory and impaired
Maria Burkovetskaya +2 more
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FRET-assisted determination of CLN3 membrane topology. [PDF]
PLoS ONE, 2014 Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, which encodes for a putative lysosomal transmembrane protein with thus far undescribed structure and function. Here we investigate the membrane topology of human CLN3
Ewa Ratajczak +3 more
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PIEZO1 is essential for the survival and proliferation of acute myeloid leukemia cells
Cancer Medicine, Volume 13, Issue 2, January 2024.Abstract Introduction Leukemogenesis is a complex process that interconnects tumoral cells with their microenvironment, but the effect of mechanosensing in acute myeloid leukemia (AML) blasts is poorly known. PIEZO1 perceives and transmits the constraints of the environment to human cells by acting as a non‐selective calcium channel, but very little is
Delphine Lebon +9 more
wiley +1 more source
Disease Models & Mechanisms, 2018 Juvenile neuronal ceroid lipofuscinosis (jNCL) is a rare but fatal inherited lysosomal storage disorder mainly affecting children. The disease is caused by mutations in the CLN3 gene that lead to the accumulation of storage material in many tissues ...
Katharina Dannhausen +2 more
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Arquivos de Neuro-Psiquiatria, 2000 The neuronal ceroid lipofuscinoses (NCL) are a group of inherited progressive neurodegenerative disorders with presentation from infancy to adulthood.
ANA CRISTINA S PUGA +4 more
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Acta Neuropathologica Communications, 2019 The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused by recessive mutations affecting the CLN3
Gemma Gomez-Giro +15 more
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