Results 151 to 160 of about 1,809,550 (296)

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice

open access: yesMolecular Therapy, 2015
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the gene that encodes α-galactosidase A and is characterized by pathological accumulation of globotriaosylceramide and globotriaosylsphingosine.
Su Xu   +24 more
semanticscholar   +1 more source

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease [PDF]

open access: yes, 2013
Fabry disease (FD) is an underdiagnosed pathology due to its symptomatology that overlaps with various systemic and rheumatic disorders, including familial Mediterranean fever (FMF).
A.l.b.e.g.g.i.a.n.i. G   +8 more
core  

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang   +3 more
wiley   +1 more source

HvarAKR1B1‐mediated tolerance in Hippodamia variegata: Deciphering the metabolic adaptation and fitness costs under prolonged starvation

open access: yesPest Management Science, EarlyView.
Starvation stress significantly affected the growth and development of Hippodamia variegata. Combined transcriptome and metabolome analysis and RNA interference verification revealed that HvarAKR1B1 may be involved in the response of Hippodamia variegata to starvation stress.
Bing‐mei Song   +5 more
wiley   +1 more source

Production of extracellular α-galactosidase by Bacillus sp. LX-1 in solid state fermentation for application as a potential feed additive

open access: yesRevista Colombiana de Ciencias Pecuarias, 2014
Background: α-galacto-oligosaccharides, including raffinose and stachyose, are present in soybean meal and used widely as a protein source in poultry diets. These compounds have anti-nutritive effects that ultimately reduce performance and value of birds.
Jaekoo Lee, Inkyung Park, Jaiesoon Cho
doaj  

Staging concept for aging management: Definition, mechanism, and coping strategies

open access: yesVIEW, EarlyView.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang   +6 more
wiley   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

open access: yesAndrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz   +12 more
wiley   +1 more source

Neurokinin‐1 receptor activation protects against cardiac fibrosis, inflammation and diastolic dysfunction in type 2 diabetic mice

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and Purpose The pathogenesis of type 2 diabetes mellitus (T2DM)‐induced cardiomyopathy involves cardiac fibrosis that leads to diastolic dysfunction. We established that replacement of lost substance P (SP) that occurs in T2DM reduces cardiac fibrosis and decreases inflammation in T2DM mice and non‐human primates.
Alexander Widiapradja   +11 more
wiley   +1 more source

Non-conventional yeasts as hosts for heterologous protein production [PDF]

open access: yes, 2010
Yeasts are an attractive group of lower eukaryotic microorganisms, some of which are used in several industrial processes that include brewing, baking and the production of a variety of biochemical compounds.
Altino Choupina   +14 more
core   +2 more sources

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

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