Results 181 to 190 of about 37,603 (244)

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Patient and family experiences of lysosomal storage diseases in Canada: A qualitative interview study. [PDF]

JIMD Rep
Awada N, Holcik M.
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

In Utero HSC Transplantation for Sickle Cell Disease: A Potential Therapeutic Approach That Overcomes Complications of Current Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Sickle cell disease (SCD) affects millions worldwide but has limited treatment options, most of which carry significant side effects. At present, the only curative treatment for SCD is allogeneic or gene‐modified autologous hematopoietic stem cell (HSC) transplantation (Tx).
Oluwaseun O. Babatunde, Madeleine G. Bibby, Anthony Atala, Graça Almeida‐Porada, Christopher D. Porada   +4 more
wiley   +1 more source

Isothiocyanates as Ferroptosis Inducers to Promote Cancer Cell Death

Phytotherapy Research, EarlyView.
ABSTRACT Cancer remains a leading cause of global mortality, with the therapeutic efficacy of anticancer drugs often hampered by late diagnosis and the development of chemotherapy resistance. Ferroptosis is an iron‐dependent form of regulated non‐apoptotic cell death driven by lipid peroxidation.
Valentina Citi, Renda Chahna, Francesca Maffei, Alma Martelli, Vincenzo Calderone, Carmela Fimognari, Eleonora Turrini   +6 more
wiley   +1 more source

Applications of chitosan derivatives as adjuvants for nanoparticle‐based vaccines: A comprehensive review

Smart Molecules, EarlyView.
This review highlights how chitosan derivatives enhance nanoparticle‐based vaccines through superior stability, mucoadhesion, and immune modulation. By triggering robust mucosal, humoral, and cellular responses, these biocompatible polymers serve as a transformative platform for next‐generation immunotherapeutics and safe and effective vaccine delivery
Sayantani Dasgupta, Susanta Paul, Swarupananda Mukherjee, Nilanjan Sarkar, Arvind Kumar, Amrita Chakraborty, Anannya Bose, Atanu Hazra, Mainak Chakraborty   +8 more
wiley   +1 more source

Endocytosis‐independent cytosolic entry of messenger RNA via fluorous bilayer zippering attenuating Toll‐like receptor signaling and enables ischemic tissue salvage

Smart Molecules, EarlyView.
The present study establishes a paradigm shift in synthetic mRNA delivery through the convergence of three orthogonal chemistries—perfluoro‐acylation, bio‐orthogonal click cross‐linking, and disulfide reduction—within a single, modular polymer architecture. Abstract A fundamental constraint of conventional messenger RNA (mRNA) delivery systems is their
Yue Wang, Haitao Xie, Guoqing Xiang, Yanhua Li, Changgui Tong, Hongyan Cui, Qixian Chen, Haidong Li, Yan Zhao   +8 more
wiley   +1 more source

Lysosomal Storage Disease [PDF]

, 2020
openaire   +1 more source

Integrative Bioinformatics, Experimental Validation, and Interpretable Machine Learning Reveal Oxyresveratrol‐Mediated Protection Against Cadmium‐Induced Lung Adenocarcinoma‐Related Transcriptional Dysregulation

Environmental Toxicology, EarlyView.
ABSTRACT Cadmium (Cd) is a toxic heavy metal strongly implicated in lung adenocarcinoma (LUAD) through mechanisms involving oxidative stress, epigenetic dysregulation, and chronic inflammation. This study aimed to identify Cd‐responsive genes associated with LUAD and to evaluate the protective effects of oxyresveratrol (O‐RES) against Cd‐induced ...
Murat Isıyel, Hamid Ceylan, Yeliz Demir
wiley   +1 more source

Clinical reasoning in feline non‐ambulatory tetraparesis or tetraplegia: Which combination of clinical information is useful?

Veterinary Record, EarlyView.
Abstract Background Non‐ambulatory tetraparesis or tetraplegia in cats may constitute a diagnostic challenge for general practitioners. Therefore, this study aimed to evaluate if clinical variables from signalment, history, clinical examination and basic ancillary tests are associated with underlying diagnoses in cats with non‐ambulatory tetraparesis ...
Guido Bertoldi, Steven De Decker
wiley   +1 more source