Results 81 to 90 of about 4,913 (183)
MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures
Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez +2 more
wiley +1 more source
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease [PDF]
, 2019 Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the spectrum of TPP1 variants
Miller, N +5 more
core +1 more source
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.
PLoS ONE, 2020 PurposeTo provide a quantitative clinical-regulatory insight into the status of FDA orphan drug designations for compounds intended to treat lysosomal storage disorders (LSDs).MethodsAssessment of the drug pipeline through analysis of the FDA database ...
Sven F Garbade +7 more
doaj +1 more source
Cells, 2020 CLN2 Batten disease (BD) is one of a broad class of lysosomal storage disorders that is characterized by the deficiency of lysosomal enzyme, TPP1, resulting in a build-up of toxic intracellular storage material in all organs and subsequent damage.
Matthew J. Haney +3 more
doaj +1 more source
Epileptic Disorders, Volume 27, Issue 5, Page 803-866, October 2025.Abstract The accurate interpretation of scalp EEG remains an instrumental diagnostic component of epilepsy care. Knowledge of what constitutes normal EEG findings, non‐epileptiform abnormalities, and epileptiform patterns—both ictal and interictal—is essential for appropriate patient management.
Juan Luis Alcala‐Zermeno +9 more
wiley +1 more source
Neuropathology and Applied Neurobiology, Volume 51, Issue 5, October 2025.ABSTRACT Proteomics of laser‐dissected lipofuscin from aged, healthy brains reveals Palmitoyl‐Protein Thioesterase 1 (PPT1) and other CLN proteins as constituents. PPT1 is increasingly sequestered to lipofuscin during ageing. Protein sequestering into lipofuscin may contribute to physiological neuronal ageing.
Max Anstötz +9 more
wiley +1 more source
Analysis of CLN1 and CLN2 expression in the cln3 bck2 stb1 and cln3 bck2 whi5 strains.
, 2013 qPCR was used to measure the expression of CLN1 and CLN2 in two of the suppressor strains. The parental strain is cln3 bck2 rme1 {MET-CLN2} (N497), and the two suppressor strains have, in addition, stb1 (N451) or whi5 (N499), as indicated.
Herman Wijnen (61991) +4 more
core +1 more source
, 2023 Cerliponase alfa is an orphan drug approved for the treatment of late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2). Our goal was to assess the cost-effectiveness of cerliponase alfa in patients with CLN2 in the socioeconomic context of the ...
Medo Gutić (14425054) +4 more
core +1 more source
Activation of CLN1 and CLN2 G1 cyclin gene expression by BCK2 [PDF]
, 1995 The Saccharomyces cerevisiae CLN3 protein, a G1 cyclin, positively regulates the expression of CLN1 and CLN2, two additional G1 cyclins whose expression during late G1 is activated, in part, by the transcription factors SWI4 and SWI6.
Di Como, C. J. +2 more
core
The Journal of Clinical Investigation, 2023 Although a disease-modifying therapy for classic late infantile neuronal ceroid lipofuscinosis (CLN2 disease) exists, poor understanding of cellular pathophysiology has hampered the development of more effective and persistent therapies.
Keigo Takahashi +10 more
doaj +1 more source