Stephen W Scheff
Stephen W Scheff
The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases [0.03%]
鞘脂链长在神经退行性疾病中的作用：鞘胺醇合成酶的参与
Oshrit Ben-David,Anthony H Futerman
Oshrit Ben-David
Ceramide forms the backbone of all complex sphingolipids and has been the focus of considerable attention in the past few years due to the discovery that ceramide plays vital roles as an intracellular messenger. Ceramide, which consists of ...
Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees [0.03%]
线粒体DNA 11777C>A突变与列氏症关联的病例报告及既往描述系谱的综述
Kinga Hadzsiev,Anita Maasz,Peter Kisfali et al.
Kinga Hadzsiev et al.
Here, we present a male infant with clinical signs of typical Leigh syndrome. The first symptom, myoclonus was presented already on the 5th day of life; at 7 months of age limb convulsions and cerebral paresis with hypotonia were developed....
Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population [0.03%]
MAGEL2与日本人群的精神分裂症和心境障碍无关
Yasuhisa Fukuo,Taro Kishi,Tomo Okochi et al.
Yasuhisa Fukuo et al.
Several investigations have reported that abnormalities in circadian rhythms might be related with the pathophysiology of psychiatric disorders, since many psychiatric patients have insomnia and sleep-awake disturbance. A recent animal stud...
Role of cytokines as mediators and regulators of microglial activity in inflammatory demyelination of the CNS [0.03%]
细胞因子在炎症性中枢神经系统脱髓鞘中的微胶质介导和调节作用
Tobias D Merson,Michele D Binder,Trevor J Kilpatrick
Tobias D Merson
As the resident innate immune cells of the central nervous system (CNS), microglia fulfil a critical role in maintaining tissue homeostasis and in directing and eliciting molecular responses to CNS damage. The human disease Multiple Scleros...
Vivian W Chow,Mark P Mattson,Philip C Wong et al.
Vivian W Chow et al.
The generation of amyloid beta-peptide (A beta) by enzymatic cleavages of the beta-amyloid precursor protein (APP) has been at the center of Alzheimer's disease (AD) research. While the basic process of beta- and gamma-secretase-mediated ge...
Altered hippocampal synaptic physiology in aged parkin-deficient mice [0.03%]
Parkin缺陷小鼠衰老过程中海马区突触可塑性的改变
Jesse E Hanson,Adrienne L Orr,Daniel V Madison
Jesse E Hanson
We examined synaptic function in the hippocampus of aged mice deficient for the Parkinson's disease-linked protein, parkin. Surprisingly, heterozygous but not homozygous parkin-deficient mice exhibited impairments in basal excitatory synapt...
Synonymous polymorphisms at splicing regulatory sites are associated with CpGs in neurodegenerative disease-related genes [0.03%]
神经退行性疾病相关基因的剪接调控位点同义多态性与CpG有关
Maria Karambataki,Andigoni Malousi,Nicos Maglaveras et al.
Maria Karambataki et al.
Neuronal plasticity is associated with alternative splicing and epigenetic modulation. Recent evidence reveals the association of cytosine methylation with alternative splicing and splicing regulatory mechanisms. Single nucleotide polymorph...
Reisa A Sperling,Bradford C Dickerson,Maija Pihlajamaki et al.
Reisa A Sperling et al.
The hallmark clinical symptom of early Alzheimer's disease (AD) is episodic memory impairment. Recent functional imaging studies suggest that memory function is subserved by a set of distributed networks, which include both the medial tempo...
Homocysteine potentiates seizures and cell loss induced by pilocarpine treatment [0.03%]
同型半胱氨酸增强胆碱致小鼠癫痫发作的次数和造成的脑损伤程度
Enrica Baldelli,Giuseppina Leo,Nicola Andreoli et al.
Enrica Baldelli et al.
Patients affected by recurrent seizures frequently present increased homocysteine plasma levels in consequence of treatment with antiepileptic drugs. Homocysteine is proconvulsant and can affect the response to antiepileptic drugs. In addit...