A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

2005 ◽  
Vol 19 (1) ◽  
pp. 12-18 ◽  
Author(s):  
Gary Hin-Fai Yam ◽  
Christian Zuber ◽  
Jürgen Roth
Keyword(s):  
Protein Misfolding ◽  
Disease Phenotype ◽  
Protein Misfolding Disorder

scholarly journals The Stability of Myocilin Olfactomedin Domain Variants Provides New Insight into Glaucoma as a Protein Misfolding Disorder

Biochemistry ◽  
2011 ◽  
Vol 50 (26) ◽  
pp. 5824-5833 ◽  
Author(s):  
J. Nicole Burns ◽  
Katherine C. Turnage ◽  
Chandler A. Walker ◽  
Raquel L. Lieberman
Keyword(s):  
Protein Misfolding ◽  
Protein Misfolding Disorder ◽  
The Stability ◽  
Insight Into

scholarly journals AL amyloidosis: untangling new therapies

Hematology ◽  
2021 ◽  
Vol 2021 (1) ◽  
pp. 682-688
Author(s):  
Susan Bal ◽  
Heather Landau
Keyword(s):  
Protein Misfolding ◽  
Plasma Cells ◽  
Delayed Diagnosis ◽  
Organ Damage ◽  
Al Amyloidosis ◽  
Immunoglobulin Light Chains ◽  
Organ Function ◽  
New Therapies ◽  
Protein Misfolding Disorder ◽  
Careful Investigation

Abstract Systemic light chain (AL) amyloidosis is a protein misfolding disorder characterized by the deposition of abnormal immunoglobulin light chains in fibrillary aggregates, resulting in end-organ damage. Several unique challenges face treating physicians, including delayed diagnosis, advanced vital organ involvement, and morbidity with treatment. Aggressive supportive care and risk-adapted application of plasma cell–directed therapies are the cornerstones of management. The therapeutic revolution in multiple myeloma will likely further expand the arsenal against plasma cells. Careful investigation of these agents will be critical to establish their role in this fragile population. The promise of fibril-directed therapies to restore organ function remains despite early disappointments. In this review, we discuss new therapies to tackle AL amyloidosis using a case-based approach.

scholarly journals Heat Shock Protein 70 in Alzheimer’s Disease

2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Rui-Chun Lu ◽  
Meng-Shan Tan ◽  
Hao Wang ◽  
An-Mu Xie ◽  
Jin-Tai Yu ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Heat Shock ◽  
Heat Shock Protein ◽  
Heat Shock Protein 70 ◽  
Protein Misfolding ◽  
Cell Loss ◽  
Protein Misfolding Disorder

Alzheimer’s disease (AD) is the most common neurodegenerative disease that caused dementia which has no effective treatment. Growing evidence has demonstrated that AD is a “protein misfolding disorder” that exhibits common features of misfolded, aggregation-prone proteins and selective cell loss in the mature nervous system. Heat shock protein 70 (HSP70) attracts extensive attention worldwide, because it plays a crucial role in preventing protein misfolding and inhibiting aggregation and represents a class of proteins potentially involved in AD pathogenesis. Numerous studies have indicated that HSP70 could suppress the progression of AD within vitroandin vivoexperiments. Thus, targeting HSP70 and the related compounds might represent a promising strategy for the treatment of AD.

A Stochastic Model for the Inheritance of the Cancer Proneness Phenotype

1987 ◽  
Vol 26 (03) ◽  
pp. 117-123
Author(s):  
P. Tautu ◽  
G. Wagner
Keyword(s):  
Stochastic Model ◽  
Gaussian Process ◽  
Covariance Function ◽  
Neoplastic Disease ◽  
Disease Phenotype ◽  
Probabilistic Representation ◽  
Temporal Behaviour ◽  
Continuous Trait ◽  
Continuous Parameter ◽  
Level Zero

SummaryA continuous parameter, stationary Gaussian process is introduced as a first approach to the probabilistic representation of the phenotype inheritance process. With some specific assumptions about the components of the covariance function, it may describe the temporal behaviour of the “cancer-proneness phenotype” (CPF) as a quantitative continuous trait. Upcrossing a fixed level (“threshold”) u and reaching level zero are the extremes of the Gaussian process considered; it is assumed that they might be interpreted as the transformation of CPF into a “neoplastic disease phenotype” or as the non-proneness to cancer, respectively.

The effects of long-term vigorous endurance exercise on the coronary arteries

2019 ◽  
Vol 67 (2) ◽  
Keyword(s):  
Endurance Training ◽  
Coronary Atherosclerosis ◽  
Calcium Score ◽  
The Other ◽  
Disease Phenotype ◽  
Male Athletes ◽  
Artery Disease ◽  
Future Work ◽  
Summary Data

Moderate endurance training is known to improve cardiovascular risk factors, and prolongs life expectancy. On the other hand, there has been some discussion whether “too much” exercise might have a contrarious effect by accelerating coronary atherosclerosis. The goal of this review was to evaluate the current literature on the effects of long-term vigorous endurance training on the coronary vasculature. In summary, data point to an increased calcium score, and a higher burden of atherosclerotic plaque in male athletes compared to sedentary controls. However, the plaques found in athletes were more prone to be calcified. The pathogenesis and clinical relevance of this athlete coronary artery disease phenotype remains incompletely understood and represents an area of important future work.

The effects of long-term vigorous endurance exercise on the coronary arteries

2019 ◽  
Vol 67 (2) ◽  
Keyword(s):  
Endurance Training ◽  
Coronary Atherosclerosis ◽  
Calcium Score ◽  
The Other ◽  
Disease Phenotype ◽  
Male Athletes ◽  
Artery Disease ◽  
Future Work ◽  
Summary Data

Moderate endurance training is known to improve cardiovascular risk factors, and prolongs life expectancy. On the other hand, there has been some discussion whether “too much” exercise might have a contrarious effect by accelerating coronary atherosclerosis. The goal of this review was to evaluate the current literature on the effects of long-term vigorous endurance training on the coronary vasculature. In summary, data point to an increased calcium score, and a higher burden of atherosclerotic plaque in male athletes compared to sedentary controls. However, the plaques found in athletes were more prone to be calcified. The pathogenesis and clinical relevance of this athlete coronary artery disease phenotype remains incompletely understood and represents an area of important future work.

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