Results 71 to 80 of about 1,071 (153)

Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner [PDF]

Bioscience Reports, 2009
NCLs (neuronal ceroid lipofuscinoses), a group of inherited neurodegenerative lysosomal storage diseases that predominantly affect children, are the result of autosomal recessive mutations within one of the nine cln genes. The wild-type cln gene products are composed of membrane and soluble proteins that localize to the lysosome or the ER (endoplasmic ...
Kristina, Oresic, Britta, Mueller, Domenico, Tortorella   +2 more
openaire   +2 more sources

The specific loss of GnRH-positive neurons from the hypothalamus of sheep with CLN6 neuronal ceroid lipofuscinosis occurs without glial activation and has only minor effects on reproduction

Neurobiology of Disease, 2011
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are characterized by progressive neurodegeneration resulting in widespread brain atrophy. Each form is assumed to be the consequence of some universal intracellular event; however, time course ...
Graham W. Kay, Nigel P. Jay, David N. Palmer   +2 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

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +1 more source

Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)

Neurobiology of Disease, 2005
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases characterized by gross brain atrophy, blindness, and intracellular accumulation of lysosome-derived storage bodies.
Manfred J. Oswald, David N. Palmer, Graham W. Kay, Stephen J.A. Shemilt, Payam Rezaie, Jonathan D. Cooper   +5 more
doaj   +1 more source

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2006
The CLN6 vLINCL is caused by molecular defects in CLN6 gene coding for an ER resident transmembrane protein whose function is unknown. In the present study gene expression profiling of CLN6-deficient fibroblasts using cDNA microarray was undertaken in order to provide novel insights into the molecular mechanisms underlying this neurodegenerative fatal ...
Teixeira, C.A.F., Lin, S., Mangas, M., Quinta, R., Bessa, C.J.P., Ferreira, C., Sá Miranda, M.C., Boustany, R-M.N., Ribeiro, M.G.   +8 more
openaire   +2 more sources

The Roles of MicroRNAs, Oncogenes, and Tumor Suppressor Gene Molecular Subtypes of Breast Cancer: Therapeutic Potential of Pharmaceutical and Natural Products

International Journal of Breast Cancer, Volume 2026, Issue 1, 2026.
Background Breast cancer (BC) is the most common malignancy among women, with 2.3 million new cases and over 670,000 deaths annually. Despite advances in detection and therapy, relapse, metastasis, and resistance remain significant challenges. Tumor suppressor genes (TSGs) regulate abnormal cell division, whereas oncogenes, which arise from proto ...
Md. Sadikuj Jaman, Md. Maniruzzaman, Md. Rokibul Hasan Bhuiyan, Md Shajedul Haque, Irfan Ahmad   +4 more
wiley   +1 more source

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Annals of Clinical and Translational Neurology, 2018
Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany   +7 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, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue   +6 more
doaj   +1 more source

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 [PDF]

The American Journal of Human Genetics, 2011
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final ...
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, SOFIA, Vito, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF   +21 more
openaire   +3 more sources