Results 11 to 20 of about 1,071 (153)

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

Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses

Data in Brief, 2021
This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell, Nadia L. Mitchell, Martin P. Wellby, Graham K. Barrell, David N. Palmer   +4 more
doaj   +4 more sources

An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]

Caspian Journal of Neurological Sciences, 2023
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri , Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee , Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili   +10 more
doaj   +2 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
Katherine White, Kathrin Meyer, Tyler B Johnson   +2 more
exaly   +3 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 Best, Stephanie Hughes, Beulah Leitch   +2 more
exaly   +3 more sources

Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses [PDF]

Frontiers in Neurology, 2022
The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina.
Udo Bartsch, Stephan Storch
doaj   +2 more sources

Location and connectivity determine GABAergic interneuron survival in the brains of South Hampshire sheep with CLN6 neuronal ceroid lipofuscinosis

Neurobiology of Disease, 2008
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are fatal inherited neurodegenerative diseases. Sheep affected with the CLN6 form provide a valuable model to investigate underlying disease mechanisms from preclinical stages.
David Palmer, Jonathan Cooper, Manfred J Oswald   +2 more
exaly   +3 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

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

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