Results 21 to 30 of about 1,365 (178)

Morphometric Brain Changes in a Merino Sheep (Ovis aries) CLN6 Neuronal Ceroid Lipofuscinosis Model [PDF]

Biology
The neuronal ceroid lipofuscinoses are the most common group of human paediatric genetic neurodegenerative disorders and have also been reported in multiple animal species.
Amelia Nanni, Emma Elcombe, Maverick Ho Ming Cheung, Timothy Stait-Gardner, Marina Gimeno, Imke Tammen, Marianne D. Keller   +6 more
doaj   +2 more sources

Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells [PDF]

Molecular Therapy, 2018
The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders characterized by general neurodegeneration and premature death. Sight loss is also a major symptom in NCLs, severely affecting the quality of life of patients, but it is ...
Robert D. Sampson, Joana Ribeiro, Abelleira-Hervas, Laura, Mole, Sara E, Sampson, Robert D, Ali, Robin R; id_orcid, Ryea Maswood, Yanai Duran, Rachael A. Pearson, Sara E. Mole, Rizzi, Matteo, Smith, Alexander J, Laura Abelleira-Hervas, Hoke, Justin, Robin R. Ali, Alexander J. Smith, Luhmann, Ulrich F O, Kleine Holthaus, Sophia-Martha, Pearson, Rachael A, Matteo Rizzi, Justin Hoke, Selina Azam, Azam, Selina, Duran, Yanai, Maswood, Ryea, Ulrich F.O. Luhmann, Sophia-Martha kleine Holthaus, Anastasios Georgiadis, Georgiadis, Anastasios, Ribeiro, Joana   +29 more
core   +5 more sources

RNA-Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics. [PDF]

Hum Mutat
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Ren J, Dai C, Meng F, Zhang P, Xie C, Xiao W, He W, Yuan S, Li X, Zhang Q, Tang W, Hu L, Chen Z, Lu G, Du J, Zeng S, Lin G.   +16 more
europepmc   +2 more sources

Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]

Scientific Reports, 2022
Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss.
S. J. Murray, N. L. Mitchell
doaj   +2 more sources

Proteomics Insights Into Lysosome Biogenesis and Maturation. [PDF]

Proteomics
ABSTRACT Lysosomes constitute the main degradative organelle of most eukaryotic cells and are capable of breaking down a wide spectrum of biomolecules, including proteins, lipids, glycans, and DNA/RNA. They play crucial roles in the regulation of cellular homeostasis, acting as metabolic signaling centers for the correlation of nutrient availability ...
Hirn K, Fajardo-Callejón S, Winter D.
europepmc   +2 more sources

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.
S. Mullen, K. R. Smith, C. J. Bromhead, Laura Canafoglia, MELETTI, Stefano, A. McDougall, Cossette, Patrick, Michela Morbin, Vito Sofia, John Damiano, L. Canafoglia, Alan McDougall, McDougall, Alan, Samuel F. Berkovic, S. Franceschetti, Smith, Katherine R., Aguglia, Umberto, A. Zini, V. Sofia, M. Morbin, Silvana Franceschetti, U. Aguglia, Sulekha Rajagopalan, E. Andermann, Vears, Danya F., Zini, Andrea, Catherine J. Bromhead, Damiano, John, M. Farrell, S. E. Mole, Mullen, Saul, Michael Farrell, Andrea Zini, F. Andermann, Andermann, Frederick, Farrell, Michael, S. F. Berkovic, T. Arsov, J. Damiano, D. F. Vears, Andermann, Eva, Frederick Andermann, M. Bahlo, Danya F. Vears, Umberto Aguglia, Rajagopalan, Sulekha, Canafoglia, Laura, Melanie Bahlo, Katherine R. Smith, Sofia, Vito, Saul Mullen, Eva Andermann, Arsov, Todor, Stefano Meletti, Patrick Cossette, Franceschetti, Silvana, Berkovic, Samuel F., Bahlo, Melanie, Mole, Sara E., Bromhead, Catherine J., P. Cossette, Morbin, Michela, S. Rajagopalan, Sara E. Mole, Todor Arsov   +64 more
core   +5 more sources

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

Molecular Therapy - Methods and Clinical Development, 2021
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Kathrin Meyer, Tyler B Johnson, Jonathan D. Cooper   +2 more
exaly   +3 more sources

Single-cell and machine learning integration reveals ferroptosis-driven immune landscapes for melanoma stratification [PDF]

Frontiers in Immunology
BackgroundFerroptosis, a regulated form of cell death, has emerged as a critical modulator of melanoma's tumor progression and immune evasion. However, its integration with the tumor immune microenvironment (TME) and clinical prognostication remains ...
Lei Wang, Lei Wang, Xueying Jin, Yuchen Wu, Runing Qiu, Jianfang Wang   +5 more
doaj   +2 more sources

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics

Neurobiology of Disease, 2017
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are
Hannah L Best, Stephanie Hughes, Beulah Leitch   +2 more
exaly   +3 more sources

Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians. [PDF]

Pregnancy (Hoboken)
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Rosenfeld EB, Kasatkin N, Yu BL, Velinov M, Brandt JS, Ashkinadze E.   +5 more
europepmc   +2 more sources