Results 31 to 40 of about 2,498 (170)
Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis [PDF]
, 2012 Recently, mutations in the DNAJC5 gene encoding cysteine-string protein alpha (CSPα) were identified to cause the neurodegenerative disorder adult-onset neuronal ceroid lipofuscinosis.
Greaves, J. +11 more
core +1 more source
Audiogenic reflex seizures in cats [PDF]
, 2015 This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Sparkes, A +5 more
core +1 more source
Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration
Frontiers in Synaptic Neuroscience, 2019 Protein palmitoylation is the post-translational, reversible addition of a 16-carbon fatty acid, palmitate, to proteins. Protein palmitoylation has recently garnered much attention, as it robustly modifies the localization and function of canonical ...
Kevin P. Koster +3 more
doaj +1 more source
Neuronal Ceroid-lipofuscinosis in a Cat [PDF]
Veterinary Pathology, 1995 Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons ...
R, Bildfell +3 more
openaire +2 more sources
Neurobiology of Disease, 2019 Loss-of-function mutations in progranulin (GRN), most of which cause progranulin haploinsufficiency, are a major autosomal dominant cause of frontotemporal dementia (FTD).
Andrew E. Arrant +8 more
doaj +1 more source
“Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series”
Molecular Genetics and Metabolism Reports, 2021 Introduction: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/TPP1 gene, with secondary enzyme deficiency.
O.M. Espitia Segura +4 more
doaj +1 more source
The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, 2022 IntroductionNeuronal Ceroid Lipofuscinosis (NCL) comprises a clinically and genetically heterogeneous group of 13 neurodegenerative lysosomal storage disorders.
Daniel Rodrigues +10 more
doaj +1 more source
Ophthalmology, 1992 Ophthalmology 99 (1992) 1796-1804. doi:10.1016/S0161-6420(92)31714-2 ; Received by publisher: 1992-04-20 ; Harvest Date: 2016-01-04 12:21:18 ; DOI:10.1016/S0161-6420(92)31714-2 ; Page Range: 1796 ...
Armed Forces Institute of Pathology, Washington, DC ( host institution ) +4 more
openaire +2 more sources
The paediatric rheumatologist and orphan disease – a story without happy ending
Rheumatology, 2016 Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them – neuronal ceroid lipofuscinosis, the most frequent ...
Justyna Roszkiewicz +2 more
doaj +1 more source
Neurobiology of Disease, 2017 Progranulin deficiency due to heterozygous null mutations in the GRN gene is a common cause of familial frontotemporal lobar degeneration (FTLD), while homozygous loss-of-function GRN mutations cause neuronal ceroid lipofuscinosis (NCL). Aged progranulin-
Terri L. Petkau +2 more
doaj +1 more source