Results 11 to 20 of about 795 (128)
Discovery of a CLN7 model of Batten disease in non-human primates
Neurobiology of Disease, 2018 We have identified a natural Japanese macaque model of the childhood neurodegenerative disorder neuronal ceroid lipofuscinosis, commonly known as Batten Disease, caused by a homozygous frameshift mutation in the CLN7 gene (CLN7−/−).
Larry S Sherman +2 more
exaly +5 more sources
The neuronal ceroid lipofuscinosis protein Cln7 functions in the postsynaptic cell to regulate synapse development [PDF]
Scientific Reports, 2019 The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, monogenic neurodegenerative disorders with an early onset in infancy or childhood. Despite identification of the genes disrupted in each form of the disease, their normal cellular role and ...
Richard Tuxworth +2 more
exaly +7 more sources
Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
Neurobiology of Disease, 2014 Mutations in the major facilitator superfamily domain containing 8 (MFSD8) gene coding for the lysosomal CLN7 membrane protein result in CLN7 disease, a lysosomal storage disease of childhood.
Michaela Schweizer +2 more
exaly +5 more sources
CLN7 gene therapy: hope for an ultra-rare condition
The Journal of Clinical Investigation, 2022 CLN7 Batten disease, also known as variant late infantile neuronal ceroid lipofuscinosis type 7 (vLINCL7), is an ultra-rare form of Batten disease that presents early in life with severe neurological symptoms, including visual deficits, motor problems ...
Jon J. Brudvig, Jill M. Weimer
doaj +3 more sources
Neurobiology of Disease, 2017 The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins.
Alamin Mohammed +4 more
doaj +4 more sources
Unifying biology of neurodegeneration in lysosomal storage diseases. [PDF]
J Inherit Metab DisAbstract There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single‐gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 ...
Ludlaim AM, Waddington SN, McKay TR.
europepmc +2 more sources
Decorin Evokes a Pro-lysosomal Pathway in Lymphatic Endothelial Cells. [PDF]
Proteoglycan ResABSTRACT The lymphatic system is critical to the body's immune and circulatory system, and lymphangiogenesis, the development of new lymphatic vessels from pre‐existing ones, is a significant process capitalized upon by cancer during tumorigenesis. Decorin is a small leucine‐rich proteoglycan which we have previously shown to be anti‐tumorigenic and a ...
Pascal GJ +6 more
europepmc +2 more sources
Cell Death and DiseaseRefractory disease and relapse continue to impede effective treatment of myeloid leukemia, despite substantial progress in therapeutic approaches. Emerging evidence implicates lysosomal ion channels in the regulation of cell death pathways, highlighting ...
Miaomiao Wu +7 more
doaj +2 more sources
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7
Frontiers in Genetics, 2022 Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Yimeng Qiao +7 more
doaj +1 more source
Loss of mfsd8 alters the secretome during Dictyostelium aggregation
European Journal of Cell Biology, 2023 Major facilitator superfamily domain-containing protein 8 (MFSD8) is a transmembrane protein that has been reported to function as a lysosomal chloride channel.
Robert J. Huber +2 more
doaj +1 more source