Results 21 to 30 of about 795 (128)
Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum
Frontiers in Cell and Developmental Biology, 2022 MFSD8 is a transmembrane protein that has been reported to transport chloride ions across the lysosomal membrane. Mutations in MFSD8 are associated with a subtype of Batten disease called CLN7 disease.
Shyong Quan Yap +3 more
doaj +1 more source
Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses
iScience, 2021 Summary: The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies.
Katharina Iwan +8 more
doaj +1 more source
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. [PDF]
PLoS ONE, 2014 The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy.
Liliana Catherine Patiño +6 more
doaj +1 more source
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis [PDF]
Brain, 2009 The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Although clinically rather uniform, variant late-infantile onset NCL (vLINCL) is genetically heterogeneous with four major underlying genes identified so far ...
Kousi, Maria +11 more
openaire +3 more sources
Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan
Animals, 2022 Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas.
Shahnaj Pervin +9 more
doaj +1 more source
A Multistakeholder Perspective on Advancing Individualized Therapeutics
Clinical Pharmacology &Therapeutics, Volume 114, Issue 5, Page 994-1001, November 2023., 2023 Precision medicine has evolved from the application of pharmacogenetic biomarkers to the prospective development of targeted therapies in patients with specific molecular/genetic subtypes of disease to truly “N‐of‐1” medicines targeted to very small numbers of patients – in some cases, a single identified patient.
Michael Pacanowski +4 more
wiley +1 more source
Neuronal ceroid lipofuscinoses in children
Annals of Indian Academy of Neurology, 2021 Background: The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types.
Mahesh Kamate +3 more
doaj +1 more source
“Atypical” Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era
Journal of Inborn Errors of Metabolism and Screening, 2021 Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration.
Favio Pesaola +9 more
doaj +1 more source
Journal of Veterinary Internal Medicine, 2020 A 2‐year‐old male domestic shorthair cat was presented for a progressive history of abnormal posture, behavior, and mentation. Menace response was absent bilaterally, and generalized tremors were identified on neurological examination.
Julien Guevar +5 more
doaj +1 more source
The Journal of Clinical Investigation, 2022 Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8.
Xin Chen +6 more
doaj +1 more source