Nickel-Atom Doping as a Potential Means to Enhance the Photoluminescence Performance of Carbon Dots.

Heteroatom doping, particularly with nonmetallic atoms such as N, P, and S, has proven to be an effective strategy for modulating the fluorescent properties of carbon dots (CDs). However, there are few reports on the regulation of the photoluminescence of CDs by transition-metal doping. In this work, nickel-doped CDs (Ni-CDs) were fabricated using the hydrothermal approach.

Design and Preparation of NiFeO@FeOOH Composite Electrocatalyst for Highly Efficient and Stable Oxygen Evolution Reaction.

Rational design and constructing earth-abundant electrocatalysts for efficient electrocatalytic water splitting is a crucial challenge. Herein, we report a simple and efficient one-step electrochemical synthetic route of the NiFeO@FeOOH composite electrocatalyst for the oxygen evolution reaction. The unique morphology of the NiFeO nanoflowers loaded on FeOOH nanosheets allows more active sites to be exposed and promote charge transfer as well as gas release, and the resulting electrode enables a current density of 10 mA cm at a low overpotential of 255 mV with outstanding stability at a current density of 100 mA cm for 300 h.

Clinical and diagnostic features of anti-neurofascin-155 antibody-positive neuropathy in Han Chinese.

Objective: To investigate the clinical features of Han Chinese patients with anti-neurofascin-155 (NF155) antibody-positive neuropathy.

Methods: We screened 194 patients with peripheral neuropathy for NF155 antibodies using a cell-based assay (CBA) and teased-fiber immunofluorescence assay. We summarized the clinical findings of seropositive patients.

Cleavage of potassium channel Kv2.1 by BACE2 reduces neuronal apoptosis.

Potassium channel Kv2.1 regulates potassium current in cortical neurons and potassium efflux is necessary for cell apoptosis. As a major component of delayed rectifier current potassium channels, Kv2.

A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.

Background And Objective: Mutations in KCNJ18, which encodes the inwardly rectifying potassium channel Kir2.6, have rarely been reported in hypokalemic periodic paralysis. We describe the clinical phenotype of a novel KCNJ18 gene mutation and perform functional characterization of this mutant Kir2.

Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR-YY1-PGC1α pathway.

Fibroblast growth factor 21 (FGF21) is a growth factor with pleiotropic effects on regulating lipid and glucose metabolism. Its expression is increased in skeletal muscle of mice and humans with mitochondrial disorders. However, the effects of FGF21 on skeletal muscle in response to mitochondrial respiratory chain deficiency are largely unknown.

Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a Chinese population.

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset neuromuscular degenerative disease characterized by ptosis, dysphagia, and proximal muscle weakness. The genetic basis has been identified as an abnormal (GCN) expansion encoding the polyalanine tract in exon 1 of the polyadenylate-binding protein nuclear 1 gene (PABPN1). OPMD is worldwide distributed, but has rarely been reported in East Asians.

[Study of mutations of presenilin 1 gene in early-onset familial Alzheimers disease].

Objective: Mutations of presenilin 1 (PSEN1) gene are the most frequent cause for familial Alzheimers disease (AD). This study was set to explore potential mutation of PSEN1 gene in a Chinese family featuring early-onset Alzheimers disease (FAD).

Methods: DNA was isolated from peripheral blood samples from 17 members of the FAD family as well as 10 patients with sporadic Alzheimers disease and 100 healthy subjects.

Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome.

We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene (MTND4). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber's hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation.

Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.

Multiple acyl-coenzyme A dehydrogenation deficiency (MADD) has a wide range of phenotypic variation ranging from a neonatal lethal form to a mild late-onset form. Our previous data showed that in a group of Chinese patients, a mild type of MADD characterized by myopathy with clinically no other systemic involvement was caused by mutations in electron transfer flavoprotein dehydrogenase (ETFDH) gene, which encodes electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO). Coenzyme Q10 (CoQ10), a downstream electron receptor of ETF:QO was first reported deficient in muscle of MADD patients with ETFDH gene mutations.

Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disorder characterized by neurodegeneration and iron accumulation in the brain. Classic and atypical PKAN are distinguished on the basis of age at onset and disease progression. PANK2, localized on chromosome20p13, is confirmed as the responsible gene.

Muscle injury induced by different types of contractions in dystrophic mdx mice.

Studies on comparing the effect of lengthening, isometric and shortening contractions on dystrophin-deficient muscles are unavailable. We hypothesized that different types of contractions lead to different extents to which dystrophin-deficient muscles are injured. For this purpose, we developed protocols for different types of contraction-induced injury to mdx muscles in vitro.