Results 191 to 200 of about 23,025 (248)

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

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review. [PDF]

Med Sci Monit
Masiarz A, Kosteczko P, Mazur M, Pelczar P, Kimber-Trojnar Ż, Leszczyńska-Gorzelak B.   +5 more
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

A challenging case of ASMD (acid sphingomyelinase deficiency): A severe interstitial lung disorder in an asplenic patient. [PDF]

Mol Genet Metab Rep
Guimas A, Martins E.
europepmc   +1 more source

Aspartic Protease Inhibition Induces Proteomic Remodeling in Paracoccidioides brasiliensis

PROTEOMICS, EarlyView.
ABSTRACT Paracoccidioidomycosis (PCM) is a major systemic mycosis in Latin America caused by Paracoccidioides brasiliensis, yet the contribution of aspartic proteases to fungal physiology and pathogenicity remains poorly understood. Here, we employed data‐independent acquisition (DIA)‐based quantitative proteomics to investigate the impact of pepstatin
Sarah Fernandes Lima, Wilson Dias Segura, Leonardo Brogliato de Moraes, Reinaldo Souza Oliveira, Pedro Henrique Corteletti Manfio, Alison Felipe Alencar Chaves, Wagner Luiz Batista   +6 more
wiley   +1 more source

Pathological depositions in human disease: converging mechanisms in atherosclerosis, Alzheimer's disease, and related disorders. [PDF]

Mol Biomed
Ragolia L.
europepmc   +1 more source

Liquiritigenin Ameliorates High‐Fat Diet‐Induced Hepatic Steatosis by Promoting Lipid Droplet Catabolism via PLIN2‐ATGL Regulation

Phytotherapy Research, EarlyView.
Liquiritigenin promotes expression of CGI‐58 and enhances lipolysis by down‐regulating expression of PLIN2, thereby facilitating the catabolism of larger‐sized lipid droplets and producing smaller‐sized lipid droplets, resulting in enhanced activity of lipophagy and ameliorated hepatic steatosis. ABSTRACT Metabolic‐associated fatty liver disease (MAFLD)
Zhuoya Xu, Jingmiao Chen, Hong Qin, Yansong Fu, Cunqi Lv, Zhipeng Wang, Xi Liu, Wenya Zheng   +7 more
wiley   +1 more source

Characterizing enteric pathology in MPS IIIA mice suggests disease-specific vulnerability among lysosomal storage disorders. [PDF]

JCI Insight
Ziółkowska EA, Williams L, Eultgen E, Kick GR, Ding X, Sorensen A, Le S, Doray B, Dickson PI, Heuckeroth RO, Cooper JD.   +10 more
europepmc   +1 more source