Results 51 to 60 of about 25,002 (280)

Mechanism of action of FDA approved small molecules (*) and small molecules in development, intended to treat a lysosomal storage disorder.

, 2020
Mechanism of action of FDA approved small molecules (*) and small molecules in development, intended to treat a lysosomal storage disorder.
Sven F. Garbade (3700849), Konstantin Mechler (8690346), Georg F. Hoffmann (8690349), Eugen Mengel (670324), Matthias Zielonka (618181), Markus Ries (213093), Stefan Kölker (757092), Christian Staufner (8690352)   +7 more
core   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Nature Communications, 2021
Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin, Víctor Sánchez, Albert Ribera, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Xavier Sánchez, Sergio Muñoz, Sara Marcó, Jennifer Pérez, Gemma Elias, Xavier León, Carles Roca, Veronica Jimenez, Pedro Otaegui, Francisca Mulero, Marc Navarro, Jesús Ruberte, Fatima Bosch   +18 more
doaj   +1 more source

Lysosomal storage disease : revealing lysosomal function and physiology

, 2010
The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept.
Parkinson-Lawrence, E., Borlace, G., Prodoehl, M., Shandala, T., Plew, R., Brooks, D.   +5 more
core   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

UiO‐66 metal–organic frameworks in biomedicine: From structural tunability to bioimaging, photodiagnostics, and photodynamic cancer therapy

FEBS Open Bio, EarlyView.
UiO‐66(Zr) metal–organic frameworks are chemically stable, biocompatible, and highly tunable nanomaterials. Their modular structure enables controlled drug delivery, multimodal bioimaging, and light‐activated photodynamic therapy, supporting integrated diagnostic and therapeutic (theranostic) applications in cancer and biomedical research.
Veronika Huntošová, Grigorii Rakhalskii, Miroslav Almáši   +2 more
wiley   +1 more source

Intrinsic Photoactive Star ZnPc–Poly(glutamate) Nanoplatforms for Multimodal Glioblastoma Therapy and Brain‐Targeted Delivery

Advanced Functional Materials, EarlyView.
An intrinsic photoactive star‐shaped zinc phtalocyanine‐poly(L‐glutamic acid) (ZnPc‐PGA) nanoplatform for multimodal glioblastoma (GBM) therapy and brain‐targeted elivery. A ZnPc‐PGA‐based multifunctional theranostic nanocarrier platform enables image‐guided, multimodal GBM therapy. ZnPc‐PGA nanocarriers support the integration of fluorescence imaging,
Amina Benaicha‐Fernández, Teodora Ranđelović, Ana Armiñán, Víctor Sebastián, Manuel Fuentes, Cristián Huck‐Iriart, Esther Masiá, Paula Carrascosa‐Marco, Pablo Juanes‐Velasco, Snežana Đorđević, Clara Bayona, Ignacio Ochoa, Maria Medel, Inmaculada Conejos‐Sánchez, María J. Vicent   +14 more
wiley   +1 more source

Significance of immune response to enzyme-replacement therapy for patients with a lysosomal storage disorder

, 2003
Lysosomal storage disorders are collectively important because they cause significant morbidity and mortality. Patients can present with severe symptoms that include somatic tissue and bone pathology, developmental delay and neurological impairment ...
Kakavanos, R., Hopwood, J., Brooks, D.
core   +1 more source

Functional Blood‐Brain Barrier Crossing by Biomimetic M13 Phage Vectors for Targeted Neuronal Delivery

Advanced Healthcare Materials, EarlyView.
This study investigates the M13 bacteriophage as a biomimetic nanovector capable of crossing in vitro models of the blood–brain barrier. By exploiting peculiar transcellular pathways, M13 avoids lysosomal degradation and preserves its structural integrity and functionality.
Silvia Vercellino, Lucia Pappagallo, Francesca De Chirico, Luca Boselli, Hazem Ahmed, Luca Spagnoletti, Giovanni Pittaluga, Paolo Emidio Costantini, Matteo Calvaresi, Pier Paolo Pompa, Alberto Danielli, Fabio Benfenati, Valentina Castagnola   +12 more
wiley   +1 more source

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain

, 2015
Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy.
Minett, M.S., Mitlett, MS, Kopach, O., Minett, MS, Mills, K., Wood, J.N., Choi, L., Vernon, J., Choi, Minee, Vernon, J, Kopach, O, Meert, T, Clayton, P.T., Clayton, PT, Mills, K, Wood, JN, Meert, T., Choi, L   +17 more
core   +1 more source