Results 1 to 10 of about 795 (128)

CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry [PDF]

IScience, 2022
Summary: The SARS-CoV-2 virus has triggered a worldwide pandemic. According to the BioGrid database, CLN7 (MFSD8) is thought to interact with several viral proteins.
Benjamin Greenberg, Christian Wetzel, Barbara Schmidt   +2 more
exaly   +9 more sources

CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survival [PDF]

Cell Death and Disease
Inherited biallelic mutations in the CLN7 gene result in the variant late infantile onset neuronal ceroid lipofuscinosis, a subtype of Batten disease (BD), a severe and fatal childhood neurodegenerative disease.
Marta Guevara-Ferrer, Tristan Mckay, Aseel Sharaireh   +2 more
exaly   +8 more sources

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype [PDF]

EMBO Molecular Medicine, 2021
Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure, visual loss, and cognitive and motor deterioration. We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 ...
Einar Kleinhans Krogsaeter, Christian Grimm, Scotto Rosato Anna   +2 more
exaly   +11 more sources

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis [PDF]

Nature Communications, 2022
CLN7 neuronal ceroid lipofuscinosis is an inherited lysosomal storage disease typically with childhood onset of neurodegenerative symptoms. Here the authors report that in a mouse model of CLN7 disease neuronal reactive oxygen species and the activity of
Ruben Quintana-Cabrera, Daniel Jiménez, Irène Lopez-Fabuel   +2 more
exaly   +9 more sources

Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants [PDF]

Molecular Genetics & Genomic Medicine
Background Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to ...
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann   +6 more
doaj   +3 more sources

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

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   +4 more sources

First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trialResearch in context [PDF]

EBioMedicine
Summary: Background: Neuronal Ceroid Lipofuscinoses type 7 (CLN7) is a paediatric lysosomal storage disease caused by mutations of the MFSD8 gene. Affected children have normal early development, but then suffer from progressive cognitive, motor, verbal,
Benjamin M. Greenberg, Berge Minassian, Souad Messahel, Veronica Bordes Edgar, Andrea Lowden, Hamza Dahshi, Emily R. Nettesheim, Hoang H. Nguyen, Samuel Hughes, Alagar R. Muthukumar, Kalayarasan Srinivasan, Susan Iannaccone, Ganapathy Varadarajan, Steven J. Gray, Saima N. Kayani   +14 more
doaj   +2 more sources

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills [PDF]

Orphanet Journal of Rare Diseases
Background This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes.
Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R. Nettesheim, Hamza Dahshi, Souad Messahel, Berge A. Minassian, Benjamin M. Greenberg   +7 more
doaj   +2 more sources

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy. [PDF]

CNS Neurosci Ther
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 ...
Zhang Y, Du B, Zou M, Peng B, Rao Y.
europepmc   +2 more sources

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]

Dev Med Child Neurol
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A, Pezzini F, Nardocci N, CLNet Consortium, Santorelli FM.   +4 more
europepmc   +2 more sources