Results 31 to 40 of about 654 (133)

A major facilitator superfamily domain 8 frameshift variant in a cat with suspected neuronal ceroid lipofuscinosis

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, Petra Hug, Felix Giebels, Alexane Durand, Vidhya Jagannathan, Tosso Leeb   +5 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, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher   +9 more
doaj   +1 more source

Characteristics of 29 novel atypical solute carriers of major facilitator superfamily type: evolutionary conservation, predicted structure and neuronal co-expression [PDF]

Open Biology, 2017
Solute carriers (SLCs) are vital as they are responsible for a major part of the molecular transport over lipid bilayers. At present, there are 430 identified SLCs, of which 28 are called atypical SLCs of major facilitator superfamily (MFS) type.
Emelie Perland, Sonchita Bagchi, Axel Klaesson, Robert Fredriksson   +3 more
doaj   +1 more source

Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma

BMC Genomics, 2021
Background To investigate whether copy number variations (CNVs) are implicated in molecular mechanisms underlying primary open-angle glaucoma (POAG), we used genotype data of POAG individuals and healthy controls from two case-control studies, AGS (n ...
Valeria Lo Faro, Jacoline B. ten Brink, Harold Snieder, Nomdo M. Jansonius, Arthur A. Bergen   +4 more
doaj   +1 more source

Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeuticsResearch in context

EBioMedicine, 2022
Summary: Background: Batten disease is characterized by cognitive and motor impairment, retinal degeneration, and seizures leading to premature death. Recent studies have shown efficacy for a gene therapy approach for CLN7 Batten disease.
Ashley A. Rowe, Xin Chen, Emily R. Nettesheim, Yacine Issioui, Thomas Dong, Yuhui Hu, Souad Messahel, Saima N. Kayani, Steven J. Gray, Katherine J. Wert   +9 more
doaj   +1 more source

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy [PDF]

Ophthalmology, 2015
This study aimed to identify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone involvement.Case series.Two families and a cohort of 244 individuals with various inherited maculopathies and cone disorders.Genome-wide linkage analysis and exome sequencing were performed in 1 large family with 5 affected ...
Roosing, S., van den Born, L.I., Sangermano, R., Banfi, S., Koenekoop, R.K., Zonneveld-Vrieling, M.N., Klaver, C.C., van Lith-Verhoeven, J.J., Cremers, F.P.M., den Hollander, A.I., den Hollander, A.I., Hoyng, C.B.   +11 more
openaire   +3 more sources

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy [PDF]

Clinical Genetics, 2019
AbstractBiallelic MFSD8 variants are an established cause of severe late‐infantile subtype of neuronal ceroid lipofuscinosis (v‐LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult‐onset maculopathy. Here, we functionally characterized two novel MFSD8 variants found in a child with juvenile isolated ...
Miriam Bauwens, Stephan Storch, Nicole Weisschuh, Chantal Ceuterick‐de Groote, Riet De Rycke, Brecht Guillemyn, Sarah De Jaegere, Frauke Coppieters, Rudy Van Coster, Bart P. Leroy, Elfride De Baere   +10 more
openaire   +4 more sources

Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia [PDF]

Acta Neuropathologica, 2018
Pathogenic variation in MAPT, GRN, and C9ORF72 accounts for at most only half of frontotemporal lobar degeneration (FTLD) cases with a family history of neurological disease. This suggests additional variants and genes that remain to be identified as risk factors for FTLD.
Geier, Ethan G, Bourdenx, Mathieu, Storm, Nadia J, Cochran, J Nicholas, Sirkis, Daniel W, Hwang, Ji-Hye, Bonham, Luke W, Ramos, Eliana Marisa, Diaz, Antonio, Van Berlo, Victoria, Dokuru, Deepika, Nana, Alissa L, Karydas, Anna, Balestra, Maureen E, Huang, Yadong, Russo, Silvia P, Spina, Salvatore, Grinberg, Lea T, Seeley, William W, Myers, Richard M, Miller, Bruce L, Coppola, Giovanni, Lee, Suzee E, Cuervo, Ana Maria, Yokoyama, Jennifer S   +24 more
openaire   +4 more sources

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Journal of Medical Case Reports, 2018
Background The neuronal ceroid lipofuscinoses are a group of neurodegenerative, lysosomal storage disorders. They are inherited as an autosomal recessive pattern with the exception of adult neuronal ceroid lipofuscinosis, which can be inherited in either
Ali Hosseini Bereshneh, Masoud Garshasbi
doaj   +1 more source

in vivo localization of the neuronal ceroid lipofuscinosis proteins, CLN3 and CLN7, at endogenous expression levels

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, Megan B. O'Hare, Alice Warley, Guy Tear, Richard I. Tuxworth   +4 more
doaj   +1 more source