Results 81 to 90 of about 8,108 (242)
International Journal of Neonatal Screening, 2019 The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases.
Alberto B. Burlina +7 more
doaj +1 more source
Fabry Disease (A Kind of Lysosomal Storage Disease)
, 2012 How to Cite this Article: Karimzadeh P. Fabery Disease (A kind of Lysosomal Storage Disease). Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):6.
KARIMZADEH, Parvaneh
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Senolytic Therapy as a Preventive Strategy for Spine Degeneration and Pain
Advanced Science, EarlyView.Cellular senescence promotes inflammation, tissue degeneration, and chronic back pain. In sparc‐null mice, early oral administration of the senolytic agents o‐vanillin and RG‐7112 reduced senescent cell burden and pro‐inflammatory SASP signaling across intervertebral discs, endplates, vertebral bone, and spinal cord.
Saber Ghazizadeh +7 more
wiley +1 more source
, 2020 The rare Niemann-Pick type C1 (NPC1) disease is a lysosomal lipid storage disorder, caused by mutations in the Npc1 gene. Since the encoded protein mediates the outflow of cholesterol from endosomal-lysosomal compartments, these mutations cause ...
Sonia Canterini +5 more
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Advanced Science, EarlyView.ABSTRACT The muscle capsule of Trichinella is a critical structure that impedes immune attacks and drug penetration, yet the molecular mechanisms underlying its formation remain poorly understood. Using a high‐quality super‐pangenome comprising 12 Trichinella species, we compared extensive genomic variations between encapsulating and non‐encapsulating ...
Qingbo Lv +8 more
wiley +1 more source
MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease
, 2010 The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core
Advanced Science, EarlyView.We developed a nanoparticle named OAF, which simultaneously targeted to both the brain and liver via the transferrin receptor 1 (TfR1) receptor, promoting lipoprotein receptor‐related protein 1 (LRP1) expression to enhance amyloid‐beta (Aβ) clearance. In AD mice model, OAF significantly reduced Aβ deposition and cognitive impairment, while a mitigating
Wenshuai Gong +8 more
wiley +1 more source
Golgi defect as a major contributor to lysosomal dysfunction
Frontiers in Cell and Developmental BiologyThe Golgi apparatus plays a crucial role in lysosome biogenesis and the delivery of lysosomal enzymes, essential for maintaining cellular homeostasis and ensuring cell survival. Deficiencies in Golgi structure and function can profoundly impact lysosomal
Sarah R. Akaaboune, Yanzhuang Wang
doaj +1 more source
Pathophysiology of neuropathic lysosomal storage disorders
, 2010 Although neurodegenerative diseases are most prevalent in the elderly, in rare cases, they can also affect children. Lysosomal storage diseases (LSDs) are a group of inherited metabolic neurodegenerative disorders due to deficiency of a specific protein ...
Cinzia Maria Bellettato +3 more
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Advanced Science, EarlyView.ABSTRACT While targeted therapies have improved outcomes in lung adenocarcinoma (LUAD), many patients still lack targetable mutations. Here, we identified alpha‐L‐fucosidase 2 (FUCA2) as a crucial driver of LUAD by preventing cellular senescence. Mechanistically, through the restriction of fucosyltransferase 3 (FUT3)‐mediated α‐1,3‐fucosylation of ...
Lu Chen +18 more
wiley +1 more source