Results 31 to 40 of about 1,648 (197)

Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder [PDF]

Brazilian Journal of Psychiatry, 2023
Objective: Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar disorder does not follow simple Mendelian patterns of inheritance. The aim of this
Flavia Privitera, Maria A. Trusso, Floriana Valentino, Gabriella Doddato, Chiara Fallerini, Giulia Brunelli, Romina D’Aurizio, Simone Furini, Arianna Goracci, Andrea Fagiolini, Francesca Mari, Alessandra Renieri, Francesca Ariani   +12 more
doaj   +2 more sources

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

Frontiers in Genetics, 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 ...
Paschalis Nicolaou, Paschalis Nicolaou, George A. Tanteles, George A. Tanteles, Christina Votsi, Christina Votsi, Eleni Zamba-Papanicolaou, Eleni Zamba-Papanicolaou, Savvas S. Papacostas, Savvas S. Papacostas, Kyproula Christodoulou, Kyproula Christodoulou, Yiolanda-Panayiota Christou, Yiolanda-Panayiota Christou   +13 more
doaj   +2 more sources

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2023
Introduction: Neuronal ceroid lipofuscinosis (NCLs) is an autosomal recessive neurodegenerative disorders group. We report the first case in Colombia involving a new genetically confirmed variant of a homozygous CLN6 mutation.
Daniel Eduardo Manrique Hernandez, Diana Sanchez-Peñarete, Sandra Milena Castellar-Leones, Lisseth Cabarcas-Castro   +3 more
doaj   +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

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

Increased zinc and manganese in parallel with neurodegeneration, synaptic protein changes and activation of Akt/GSK3 signaling in ovine CLN6 neuronal ceroid lipofuscinosis. [PDF]

PLoS ONE, 2013
Mutations in the CLN6 gene cause a variant late infantile form of neuronal ceroid lipofuscinosis (NCL; Batten disease). CLN6 loss leads to disease clinically characterized by vision impairment, motor and cognitive dysfunction, and seizures.
Katja M Kanninen, Alexandra Grubman, Jodi Meyerowitz, Clare Duncan, Jiang-Li Tan, Sarah J Parker, Peter J Crouch, Brett M Paterson, James L Hickey, Paul S Donnelly, Irene Volitakis, Imke Tammen, David N Palmer, Anthony R White   +13 more
doaj   +3 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

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 not targeted effectively by brain-directed therapies.
Kleine Holthaus, Sophia-Martha, Ribeiro, Joana, Abelleira-Hervas, Laura, Pearson, Rachael A, Duran, Yanai, Georgiadis, Anastasios, Sampson, Robert D, Rizzi, Matteo, Hoke, Justin, Maswood, Ryea, Azam, Selina, Luhmann, Ulrich F O, Smith, Alexander J, Mole, Sara E, Ali, Robin R   +14 more
openaire   +5 more sources

Aggregation chimeras provide evidence of in vivo intercellular correction in ovine CLN6 neuronal ceroid lipofuscinosis (Batten disease)

PLoS ONE, 2022
The neuronal ceroid lipofuscinoses (NCLs; Batten disease) are fatal, mainly childhood, inherited neurodegenerative lysosomal storage diseases. Sheep affected with a CLN6 form display progressive regionally defined glial activation and subsequent ...
Lucy Anne Barry, Graham William Kay, Nadia Lesley Mitchell, Samantha Jane Murray, Nigel P. Jay, David Norris Palmer   +5 more
doaj   +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