Results 241 to 250 of about 56,286 (316)

The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1‐Associated Parkinsonism

Movement Disorders, EarlyView.
Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan J. Marugan, Ellen Sidransky   +5 more
wiley   +1 more source

Biomarkers for gene therapy clinical trials of lysosomal storage disorders. [PDF]

Mol Ther
Rossi A, Malvagia S, la Marca G, Parenti G, Brunetti-Pierri N.   +4 more
europepmc   +1 more source

VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients

Movement Disorders, EarlyView.
Abstract Background Membrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane‐residing, bridge‐like protein connecting two membranes to enable bulk lipid transfer. Loss‐of‐function mutations in the VPS13A gene cause VPS13A disease.
Dajana Grossmann, Adrian Spranger, Emily Fischer, Johanna W. Schubarth, Jenny Leopold, Hannes Glaß, Sebastian Klicker, My Uyen Dang Thi, Anna Elisabeth Bartalis, Andreas Hermann, Kevin Peikert   +10 more
wiley   +1 more source

D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders. [PDF]

Mol Psychiatry
De Risi M, Cusimano L, Bujanda Cundin X, Pizzo M, Gigante Y, Monaco M, Di Eugenio C, De Leonibus E.   +7 more
europepmc   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat. [PDF]

Genes (Basel)
Hay Mele B, Rossetti F, Cubellis MV, Monticelli M, Andreotti G.   +4 more
europepmc   +1 more source

Bioenergetic Profiling Applied to a Zebrafish Model of Neuronal Ceroid Lipofuscinosis, a Lysosomal Storage Disorder [PDF]

Valentina Marchica, Emily Young, Nastassja Ramdeen, Biggy Simbi, Claire Russell   +4 more
openalex   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Engineering memory T cells as a platform for long-term enzyme replacement therapy in lysosomal storage disorders. [PDF]

Mol Ther
Kleinboehl EW, Laoharawee K, Jensen JD, Peterson JJ, Slipek NJ, Wick BJ, Johnson MJ, Webber BR, Moriarity BS.   +8 more
europepmc   +1 more source

Engineering a Tumor‐Targeted MgH2@Lip/PD‐L1 Nanoplatform for Synergistic Hydrogen Therapy and Immune Activation

Rare Metals, EarlyView.
ABSTRACT Lung cancer remains the leading cause of cancer‐related deaths worldwide, yet immune checkpoint blockade (ICB) is often compromised by an immunosuppressive tumor microenvironment (TME) with acidosis, hypoxia, and poor T cell infiltration. Here, we develop a TME‐responsive nanoplatform (MgH2@Lip/PD‐L1) that couples hydrogen gas therapy with PD ...
Xuyu Gu, Ming Deng, Tao Ge, Li Xu, Xinnan Xu, Kaiqi Jin   +5 more
wiley   +1 more source