Results 221 to 230 of about 2,496,873 (280)

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity.
Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg   +6 more
wiley   +1 more source

Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy. [PDF]

Int J Mol Sci
Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP.   +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

Mapping Sanfilippo Syndrome: A Multisystem Clinicopathological Autopsy. [PDF]

Diagnostics (Basel)
Trandafirescu MF, Avădănei ER, Filip N, Saveanu CI, Foia I, Toma V, Baroi LG, Anton-Paduraru DT, Moisa SM, Lozneanu L.   +9 more
europepmc   +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

Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]

Front Med (Lausanne)
Wang H, Xing W.
europepmc   +1 more source

Microglia Ablation and Downstream Effects in the Cerebrospinal Fluid Proteome

PROTEOMICS, EarlyView.
ABSTRACT Disease‐related activation of glial cells leads to changes in the cerebrospinal fluid (CSF) proteome. However, assigning such protein changes to their cellular origins is often difficult. Here, we used microglia (and macrophage) depletion in mice to identify CSF proteins of microglial origin.
Sinja Buchner, Sihui Song, Stephan A. Müller, Yun Chen, Samira Parhizkar, Stefan F. Lichtenthaler, David M. Holtzman, Mathias Jucker, Stephan A. Kaeser   +8 more
wiley   +1 more source

The application of enzyme replacement therapy in vitro and in a mouse model in aspartylglycosaminuria [PDF]

Dunder, Ulla
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