Results 221 to 230 of about 24,273 (376)

The CRISPR‐Cas9 knockout DDC SH‐SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross‐sectional structural and functional analysis

open access: yesThe FEBS Journal, EarlyView.
Here, we generated a DDC‐KO cellular model for studying aromatic amino acid decarboxylase (AADC) deficiency. This model was created using CRISPR‐Cas9 in the SH‐SY5Y neuroblastoma cell line and was validated through the absence of the dopamine product and an altered l‐dopa metabolite profile.
Cristian Andres Carmona‐Carmona   +11 more
wiley   +1 more source

Cholinergic dysfunction in isolated rapid eye movement sleep behaviour disorder links to impending phenoconversion. [PDF]

open access: yesEur J Neurol
Terkelsen MH   +19 more
europepmc   +1 more source

In vivo and in silico models of Drosophila for Parkinson's disease

open access: yesThe FEBS Journal, EarlyView.
In vivo and in silico models of Drosophila offer valuable advantages in the generation, analysis, and interpretation of complex biological data, thereby significantly advancing our understanding of Parkinson's disease. Molecular‐level measurements and phenotypic data from Drosophila are extensively utilised in metabolic network modeling and artificial ...
Müberra Fatma Cesur   +3 more
wiley   +1 more source

Arterio-venous differences in cord levels of catecholamines, glucose, lactate and blood gases [PDF]

open access: yes, 2016
Eisenhofer, Graeme   +4 more
core   +2 more sources

Self‐reported autonomic dysfunction could be a predictive marker for sarcopenia in Parkinson's disease

open access: yesGeriatrics &Gerontology International, EarlyView.
Autonomic dysfunction, assessed by the Scales for Outcomes in Parkinson's Disease‐Autonomic Questionnaire, was significantly associated with sarcopenia in patients with Parkinson's disease. Among all autonomic domains, the gastrointestinal score had the strongest predictive ability for sarcopenia.
Motohiro Okumura   +3 more
wiley   +1 more source

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