Results 171 to 180 of about 42,400 (289)

Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. [PDF]

FEBS Lett, 2018
Pande S, Bizilj W, Guo HC.
europepmc   +1 more source

Multi‐Targeting Ligands as Prospective Therapeutics for Alzheimer's Disease, a Prevalent Neurodegenerative Disorder: Mechanistic Insights, Emerging Targets and Drug Discovery Campaigns

Medicinal Research Reviews, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a debilitating neurodegenerative condition characterized by progressive cognitive impairment, memory deterioration, and neuronal dysfunction. Its complex pathophysiology involves multiple interlinked processes, including amyloid‐β (Aβ) aggregation, tau hyperphosphorylation, oxidative stress, neuroinflammation ...
Amandeep Thakur, Mandeep Rana, Sakshi Vanjani, Kei‐Chi Liou, Rajeev Taliyan, Kunal Nepali, Chih‐Hao Yang   +6 more
wiley   +1 more source

Development and Evaluation of Different Electrospun Cysteamine-Loaded Nanofibrous Webs: A Promising Option for Treating a Rare Lysosomal Storage Disorder. [PDF]

Pharmaceutics
Omer S, Nagy N, Pinke B, Mészáros L, Kazsoki A, Zelkó R.   +5 more
europepmc   +1 more source

Association of luteal cell degeneration and progesterone deficiency with lysosomal storage disorder mucolipidosis type IV in Mcoln1-/- mouse model†. [PDF]

Biol Reprod, 2019
Wang Z, El Zowalaty AE, Li Y, Andersen CL, Ye X.   +4 more
europepmc   +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

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. [PDF]

Brain, 2017
Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J, International Parkinson’s Disease Genomics Consortium (IPDGC), Heutink P, Shulman JM.   +8 more
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

Iron Physiology and Its Impact on Atopic Diseases: An EAACI Taskforce Report

Allergy, EarlyView.
ABSTRACT Iron is essential for oxygen transport, energy metabolism, and immune regulation. Yet iron deficiency is the most common micronutrient disorder across all age groups, affecting nearly one quarter of the global population. Iron deficiency triggers nutritional immunity, a host defense mechanism that withholds and redistributes iron, contributing
Franziska Roth‐Walter, Ioana Agache, Beatriz Cabanillas, Roberto Berni Canani, Pasquale Comberiati, Holger Garn, Cristina Gomez‐Casado, Karin Hufnagl, Ekaterina Khaleva, Gregorio P. Milani, Daniel Munblit, Nikolaos Douladiris, Liam O'Mahony, Frank Redegeld, Carmen Riggioni, Peter K. Smith, Betty van Esch, Emilia Vassilopoulou, Carina Venter, Diego G. Peroni   +19 more
wiley   +1 more source

Altered cytoskeletal integrity underlies impaired platelet shape change and defective thrombus formation in ETV6‐related thrombocytopenia

British Journal of Haematology, EarlyView.
Summary ETV6‐related thrombocytopenia (ETV6‐RT) is an inherited platelet disorder caused by germline ETV6 variants. Despite recent progress, the mechanisms underlying platelet dysfunction in ETV6‐RT remain unclear. We investigated 12 patients from six families using functional assays, electron microscopy, quantitative proteomics and cytoskeletal ...
Ivan P. Tesakov, Julia‐Jessica D. Korobkin, Daria V. Fedorova, Sofia V. Galkina, Maria M. Golomysova, Sergei I. Obydennyi, Anastasia A. Ignatova, Ekaterina‐Iva A. Adamanskaya, Eugenia V. Yushkova, Anna V. Pavlova, Pavel A. Zharkov, Igor I. Kireev, Galina A. Novichkova, Viktor G. Zgoda, Mikhail A. Panteleev, Anastasia N. Sveshnikova   +15 more
wiley   +1 more source