Advanced Science, EarlyView.Sarcopenia has emerged as a major health challenge in the aging population. Developing a sustained‐release system for whey protein may enhance its effectiveness in mitigating sarcopenia. Herein, a novel “single‐protein particle encapsulation” (SPPE) system is developed to protect whey protein and control its release.
Yafei Zhang +11 more
wiley +1 more source
Leucine-Sensitive Hypoglycæmia [PDF]
Proceedings of the Royal Society of Medicine, 1970 G, Tevaarwerk +3 more
openaire +2 more sources
Advanced Science, EarlyView.OSMR mutations disrupt STAT5 signaling and AKR1B10‐mediated lipid metabolism, leading to lipid accumulation and protein aggregation in keratinocytes. This metabolic reprogramming drives amyloid deposition in primary localized cutaneous amyloidosis, revealing a mechanistic link between lipid dysregulation and amyloidogenesis.
Huiting Liu +8 more
wiley +1 more source
Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases. [PDF]
Health Sci RepAbtahi-Naeini B +4 more
europepmc +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
The Role of Branched-Chain Amino Acids in Nutrient Allocation of the Porcine Placenta: A Review. [PDF]
Animals (Basel)Bai J +9 more
europepmc +1 more source
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
Regulatory mechanism of leucine-amidated pectin on the gel properties of shrimp surimi as a salt substitute. [PDF]
Food Chem XWang Y +8 more
europepmc +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source