Results 91 to 100 of about 6,644 (221)

Delivering Progranulin to Astrocytic Lysosomes Promotes Growth of Co‐Cultured Neurons

Journal of Neurochemistry, Volume 169, Issue 11, November 2025.
Loss‐of‐function progranulin (GRN) mutations cause frontotemporal dementia. Most of these mutations cause haploinsufficiency of progranulin, a secreted pro‐protein that has neurotrophic and anti‐inflammatory effects. Progranulin is constitutively secreted before trafficking to lysosomes and it is unclear if its effects are mediated by extracellular ...
Azariah K. Kaplelach, Justin A. Hall, Wren O. Nader, Amelia G. Davidson, Margaret D. Ireland, Lara Ianov, Andrew E. Arrant   +6 more
wiley   +1 more source

Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response

BMC Neuroscience, 2007
Background The infantile form of neuronal ceroid lipofuscinosis (also known as infantile Batten disease) is caused by hereditary deficiency of a lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1), and is characterized by severe cortical ...
Hofmann Sandra L, Lu Jui-Yun, Qiao Xingwen   +2 more
doaj   +1 more source

MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis

, 2020
BACKGROUND AND PURPOSE: Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by ...
X E H Baker, X Z Zhang, X A B Mukherjee, X S W Levin   +3 more
core  

Autosomal dominant adult neuronal ceroid lipofuscinosis

, 2011
this thesis investigates a family with autosomal dominant neuronal ceroid lipofuscinosis, with chapters on clinical neurology, neuropathology, neurogenetics, neurophysiology, auditory and visual aspects.UBL - phd migration ...
Nijssen, P.C.G.
core  

Diagnostic value of electron microscopy in a case of juvenile neuronal ceroid lipofuscinosis

, 2001
Neuronal ceroid lipofuscinoses (NCLs) represent a large group of inherited neurodegenerative disorders characterized by an abnormal accumulation of lipopigment in neuronal and extraneuronal cells.
Carlén, Birgitta, Englund, Elisabet
core   +1 more source

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in Brief, 2016
The article contains raw and analyzed data related to the research article “Neuronal ceroid lipofuscinosis genes, CLN2, CLN3, CLN5 are spatially and temporally co-expressed in a developing mouse brain” (Fabritius et al., 2014) [1].
Helena M. Minye, Anna-Liisa Fabritius, Jouni Vesa, Leena Peltonen   +3 more
doaj   +1 more source

Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice

Disease Models & Mechanisms, 2013
SUMMARY Both CLN1 and CLN5 deficiencies lead to severe neurodegenerative diseases of childhood, known as neuronal ceroid lipofuscinoses (NCLs). The broadly similar phenotypes of NCL mouse models, and the potential for interactions between NCL proteins ...
Tea Blom, Mia-Lisa Schmiedt, Andrew M. Wong, Aija Kyttälä, Jarkko Soronen, Matti Jauhiainen, Jaana Tyynelä, Jonathan D. Cooper, Anu Jalanko   +8 more
doaj   +1 more source

Progress towards understanding the neurobiology of Batten disease or neuronal ceroid lipofuscinosis

, 2003
Purpose of review The identification of genes mutated in the neuronal ceroid lipofuscinoses has accelerated research into the mechanisms that underlie these fatal autosomal recessive storage disorders, which are often referred to as Batten disease.
Cooper, J D
core   +1 more source

Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis

, 1993
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described.
Martinsson, Tommy,, Wahlström, Jan,, Uvebrant, Paul,, Conradi, Nils,, Björck, Eva,, Hökegård, Klas-Henry   +5 more
core  

Late infantile neuronal ceroid lipofuscinosis: A case report Geç infantil nöronal seroid lipofusinoz: Bir olgu sunumu

, 2010
Neuronal ceroid lipofuscinoses are the most common neurodegenerative childhood-onset disorders characterized by autosomal recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual failure, and premature death.
Özoǧul, Candan, YİŞ, ULUÇ, HIZ, AYŞE SEMRA, Dirik, Eray   +3 more
core   +1 more source