Results 111 to 120 of about 1,285 (177)

Untersuchungen zu molekularen Veränderungen der humanen varianten Form der spät infantilen Neuronalen Ceroid Lipofuszinosen (CLN6) und des nclf -Mausmodells (Mus musculus; Linneaus L., 1758)

, 2006
Die Neuronalen Ceroid Lipofuszinosen (NCL) stellen mit einer Inzidenz von 1:12.500 die am weitesten verbreitete Gruppe neurodegenerativer Erkrankungen im Kindesalter dar. Die NCL sind lysosomale Speichererkrankungen. Die variante Form der spät infantilen
Koch, Bettina
core  

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  

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]

World J Clin Cases, 2023
Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y.   +4 more
europepmc   +1 more source

Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. [PDF]

Brain Commun, 2023
Murray SJ, Almuqbel MM, Felton SA, Palmer NJ, Myall DJ, Shoorangiz R, Ella A, Keller M, Palmer DN, Melzer TR, Mitchell NL.   +10 more
europepmc   +1 more source

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. [PDF]

Int J Mol Sci, 2023
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C.   +14 more
europepmc   +1 more source

Strategies to treat neurodegeneration in neuronal ceroid lipofuscinosis: a view onto the retina. [PDF]

Neural Regen Res, 2023
Bartsch U.
europepmc   +1 more source

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  

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

These longitudinal datasets provide a-wave and b-wave electroretinography amplitudes collected from healthy control sheep and sheep affected with CLN5 and CLN6 forms of ovine neuronal ceroid lipofuscinosis (Batten disease)
Palmer, David, Mitchell, Nadia, Barrell, Graham, Russell, Katharina, Wellby, Martin   +4 more
core   +1 more source

Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer. [PDF]

J Clin Invest
Bajaj L, Sharma J, di Ronza A, Zhang P, Eblimit A, Pal R, Roman D, Collette JR, Booth C, Chang KT, Sifers RN, Jung SY, Weimer JM, Chen R, Schekman RW, Sardiello M.   +15 more
europepmc   +1 more source

Gene transfer can prevent stereotypical disease development in ovine CLN5 and CLN6 models of NCL

, 2016
Gene therapy represents a promising treatment strategy for the NCLs. Sheep with naturally occurring NCLs are ideal translational subjects for gene therapy studies as they have large complex human-like gyrencephalic brains and recapitulate the key ...
Wellby, MP, Palmer, DN, Mitchell, Nadia, Gray, SJ, Russell, KN, Melzer, TR, Hughes, SM, Assis, AB, Wicky, HE, Cooper, JD, Barrell, GK   +10 more
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