Results 101 to 110 of about 1,359 (178)
Understanding Batten disease: CLN5 expression in CLN6 deficient ovine neural cultures.
, 2014 Neuronal Ceroid Lipofuscinoses (NCL) are a group of debilitating and fatal neurodegenerative diseases of childhood resulting from progressive brain atrophy.
McIntyre, Kristina
core
Decreased motor coordination deficits in Cln6nclf mice.
, 2013 (A) Rotarod testing was performed on postnatal day 14, 28, 90, and 270 old WT and Cln6nclf mice. Data are plotted as average latency to fall from the rotating rod during a 240 second trial period (3 trials per mouse per time point).
Helen Magee (479018) +6 more
core +1 more source
Learning and memory deficits are associated with mutation in Cln6.
, 2013 Following a period of habituation and training, memory and learning performance were tested in a radial arm maze task. (A–B) In an assay of memory, Cln6nclf mice displayed a significant increase in the latency (time in seconds) to complete an 8-arm ...
Helen Magee (479018) +6 more
core +1 more source
Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6
Animal GeneticsAbstractNeuronal 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 +4 more
openaire +2 more sources
A reduction in brain mass and cortical volume seen in the adult Cln6nclf mouse.
, 2013 Brain mass was assessed in the Cln6nclf, as a decrease in brain mass is often seen in vLINCL patients. (A) Brain mass was reduced beginning at 5 months when compared to age matched controls.
Helen Magee (479018) +6 more
core +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 +5 more
doaj
CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinosesCLN6 (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 +1 more source
, 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
Glycolysis reprogramming predicts poor prognosis and drives therapy resistance via CLN6 in lethal prostate cancer. [PDF]
Acta Biochim Biophys Sin (Shanghai)Cai Z +12 more
europepmc +1 more source
Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]
World J Clin Cases, 2023 Wang XQ +4 more
europepmc +1 more source