Results 81 to 90 of about 146 (120)

Generierung monoklonaler Antikörper gegen das Protein CLN6

, 2017
Neuronal Ceroid Lipofuscinoses NCL /CLN are neurodegenerative hereditary disorders of children and adolescents caused by mutations in CLN proteins. The functions of most CLN proteins are unknown. The ER membrane protein CLN6 has been identified as a cause of juvenile NCL and its involvement in growth processes in the Dorsal Root Ganglion, and a ...
openaire   +2 more sources

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

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   +1 more source

CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy [PDF]

Journal of the korean child neurology society, 2018
null 이현경, null 우영종, null 김명규, null 윤보애, null 김영옥   +4 more
openaire   +1 more source

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6

Genes
A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy.
Tendai Mhlanga-Mutangadura, Garrett Bullock, Sofia Cerda-Gonzalez, Martin L. Katz   +3 more
openaire   +2 more sources

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

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   +1 more source

Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6

Animal Genetics
AbstractNeuronal ceroid lipofuscinosis (NCL) is a group of neurodegenerative disorders that occur in humans, dogs, and several other species. NCL is characterised clinically by progressive deterioration of cognitive and motor function, epileptic seizures, and visual impairment.
Kim K. L. Bellamy, Fredrik S. Skedsmo, Josefin Hultman, Johan Høgset Jansen, Frode Lingaas   +4 more
openaire   +2 more sources

Issue Information

Epilepsia Open, Volume 10, Issue 1, Page 1-9, February 2025.
wiley   +1 more source

Генетично верифициран случай на невронална цероидлипофусциноза с нова мутация в CLN6 гена

Българска неврология, 2019
Невроналните цероидни липофусцинози, носещи сборно наименование Болест на Batten (NCLs) представляват хетерогенна група често срещани наследствени невродегенеративни заболявания с начало в различни периоди на детската възраст и по-рядко у възрастни.
Maya Koleva, V. Bojinova, N. Ivanova, K. Mihova, R. Kuneva, I. Tournev   +5 more
doaj  

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses
CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
openaire  

Investigation of the Batten Disease protein CLN6.

openaire   +1 more source