神经生物学

Arterial hypertension is a well-known risk factor for stroke and cognitive deterioration of vascular origin, including vascular cognitive impairment (VCI) and vascular dementia (VaD). Patients with ischemic VaD have a significantly greater incidence of hypertension than pat ...

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a human genetic syndrome that causes multiple small strokes, due to a single-gene, autosomal dominant mutation with 100% penetrance. CADASIL mutations encode amino acid ...

Frontotemporal dementia (FTD) is a multifaceted syndrome with a high degree of clinical and �neuropathological variability, an extensive genetic contribution, and involvement of multiple proteins. FTD accounts for up to 50% of dementias with the onset prior to age 60. The heterogeneous ...

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the selective death of motor neurons. Although ALS is predominantly a disease of motor system degeneration, cognitive impairments have also been reported. In order to determine the pathogenic m ...

Metachromatic leukodystrophy (MLD) and adrenoleukodystrophy (ALD) are two inherited �leukodystrophies that result in most cases in rapid destruction of the myelin within the central nervous system. There are no spontaneous animal models of these two leukodystrophies and knoc ...

Parkinson’s disease (PD) is primarily recognized as a motor disorder; however, patients also present with a wide range of nonmotor manifestations. Cognitive dysfunctions in nondemented PD patients can occur early in the disease and primarily consist of deficits in executive function. ...

Alzheimer’s disease (AD) is a devastating disease, and the most common form of dementia to afflict the elderly population. The disease causes a slow but progressive neurodegeneration, leading to memory impairments and dysfunction in other cognitive domains. The molecular mechanism of ...

Tau pathology refers to molecular mechanisms leading to the intracellular aggregation of abnormally modified Tau protein isoforms and to the propagation of this degenerating process along neuronal �circuitry. Tau proteins belong to the family of microtubule-associated prot ...

Producing a valid animal model of apolipoprotein E (APOE )-based dementia is critical to understanding the etiology and progression of late-onset Alzheimer’s disease (AD). Unfortunately, no such model exists. Herein, I review all past and present attempts to create an APOE-based model wi ...

Each chapter in this volume describes in detail the application of one or a group of photosensitive molecules to biological research. In this chapter, we take up general prefatory questions: how to determine which molecules are appropriate to use, and what type of compound delivery and light-t ...

The field of organic chemistry has provided neurobiologists with the ability to release biologically active neurotransmitters at precise locations and times of their choosing. These molecules are silent before the active molecule is released by photolysis, thus allowing for very a ...

Since much of the life of cells is controlled by their chemistry, caged compounds can be used to intervene in this life in a myriad of specific ways. Organic chemists have synthesized the widest possible array of caged compounds for use by biologists. The smallest possible chemical unit (protons) to t ...

The localized release of bioactive molecules from “caged compounds” through two-photon excitation (2PE) is an emerging technology for the study of biological processes in cell and tissue culture and whole animals. Several advantages are realized when 2PE drives the activation of the bi ...

Light sensing in nature has had the benefit of evolutionary time to optimize light-sensing and �photoresponsive molecular systems. Molecular biologists and neurobiologists have recently discovered that these optimized systems can be adapted for very specific purposes and to fi ...

Vertebrate and invertebrate rhodopsins are G-protein-coupled receptors that are involved in sensing light. Light activation of these receptors leads to intracellular responses via activation of G-proteins. Both receptor types belong to the Class A (rhodopsin-like) family of se ...

A leading cause of blindness worldwide is degeneration of the retinal photoreceptor cells. The two large classes of such disorders are retinitis pigmentosa, which affects ∼100,000 individuals in the USA, and macular degeneration, which affects ∼3,000,000. The causes of both disorders a ...

Photocontrol of protein function with azobenzene-based photoswitches promises to be a powerful tool for probing roles of proteins in vivo. In designing azobenzene-based switches for in vivo use, a number of challenges must be met. In this short review, we highlight progress in meeting some of t ...

Multiple strategies enabling the control of cellular function with light have been developed. These strategies include the expression of intrinsically photosensitive proteins and the use of photosensitive molecules that target native or exogenously expressed proteins. In p ...

Human genetic disease linked to mitochondrial DNA (mtDNA), the other genome in our cells, was first recognized in 1988 (1,2). Mitochondrial genetics has certain unique features (reviewed in ref. 3): 1) Maternal inheritance: Mitochondria are maternally inherited and therefore mtDNA mut ...

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy with a frequency of 1 in 20,000 and a penetrance of 95 % by the age of 20. affects specific muscle groups (facial, upper girdle, upper arm, pelvic girdle, and foot extensor) and displays a variety of phenotypic express ...