Results 81 to 90 of about 1,285 (177)

Identification of a novel mutation in the CLN6 gene (CLN6) in South Hampshire sheep affected with Neuronal Ceroid Lipofuscinosis [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle.
Mohd Ismail, Izmira Farhana
core  

Mutant GFP-Cln6 is rapidly degraded by proteasomes.

, 2012
BHK cells overexpressing murine wild-type or mutant p.R103PfsX62 GFP-Cln6 (mut) were labelled for 24 hours with [35S]-methionine (75 µCi/ml) and either harvested or chased for 3 (lanes 1–4) and 24 hours (lanes 5–8) in the absence (–) or presence (+) of ...
Andrew M.S. Wong (170462), Jonathan D. Cooper (169584), Melanie Thelen (170447), Giovanna Galliciotti (170469), Christian Hagel (140848), Markus Daμμe (170451), Thomas Braulke (170466), Michaela Schweizer (170454)   +7 more
core   +1 more source

Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.

PLoS ONE, 2015
Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration.
Stephen J Sawiak, Sunthara Rajan Perumal, Skye R Rudiger, Loren Matthews, Nadia L Mitchell, Clive J McLaughlan, C Simon Bawden, David N Palmer, Timothy Kuchel, A Jennifer Morton   +9 more
doaj   +1 more source

Association of Lifestyle‐Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome

Journal of Diabetes, Volume 17, Issue 4, April 2025.
ABSTRACT Aims Lifestyle‐induced weight loss (LIWL) is considered an effective therapy for the treatment of metabolic syndrome (MetS). The role of differentially expressed genes (DEGs) in adipose tissue function and in the success of LIWL in MetS is still unclear.
Silke Zimmermann, Kirsten Roomp, Hans‐Jonas Meyer, Akash Mathew, Manuel Florian Struck, Matthias Blüher, Hugo N. G. Martin, Maria Keller, Kathrin Landgraf, Antje Körner, Anne Hoffmann, Yvonne Böttcher, Kathleen Biemann, Adhideb Ghosh, Christian Wolfrum, Falko Noé, Berend Isermann, Jochen G. Schneider, Ronald Biemann   +18 more
wiley   +1 more source

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease [PDF]

, 2019
The neuronal ceroid lipofuscinoses (NCLs), more commonly referred to as Batten disease, are a group of inherited lysosomal storage disorders that present with neurodegeneration, loss of vision and premature death.
Herranz-Martin, S, Hughes, MP, Klaska, IP, Hoke, J, Holthaus, S-MK, Ali, RR, Massaro, G, Semenyuk, O, Maswood, R, Shah, AZ, Basche, M, Aristorena, M, Rahim, AA, Mole, SE, Smith, AJ   +14 more
core  

Table1_A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.DOCX

, 2021
The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive lysosomal storage disorders that are characterized by neurodegeneration, progressive cognitive decline, motor impairment, ataxia, loss of vision ...
Savvas S. Papacostas (6489914), Eleni Zamba-Papanicolaou (91067), Kyproula Christodoulou (91068), Christina Votsi (91065), Paschalis Nicolaou (91063), George A. Tanteles (9315770), Yiolanda-Panayiota Christou (11727911)   +6 more
core   +1 more source

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

JIMD Reports, 2019
Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews   +8 more
doaj   +1 more source

Identification of a novel mutation and a rare case of CLN6 and computation protein structure

, 2023
Abstract Neuronal ceroid lipofuscinoses (NCLs) also known as Batten disease jointly account the highest incidences of hereditary neurodegenerative disease in childhood. This disease is mostly presented by vision loss, ataxia, premature mortality in later stages of disease and epileptic seizures.
Fozhan Saboori, Nazanin Ghaderi Nejad
openaire   +1 more source

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

Molecular Genetics & Genomic Medicine, 2020
Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues.
Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Popov, Ekaterina I. Surkova, Peter A. Shatalov, Alexander S. Rakitko, Valery V. Ilinsky   +15 more
doaj   +1 more source

Cross–regulation of CLN5 and CLN6 gene expression in ovine Batten disease models

, 2017
Sheep with naturally occurring CLN5 and CLN6 forms of Batten disease (neuronal ceroid lipofuscinoses, NCLs) are studied as models of the human diseases.
Palmer, DN, Chen, J, Mitchell, Nadia
core