Large potentials of small heat shock proteins

EV Mymrikov, AS Seit-Nebi… - Physiological …, 2011 - journals.physiology.org
Modern classification of the family of human small heat shock proteins (the so-called HSPB)
is presented, and the structure and properties of three members of this family are analyzed …

Alpha-crystallin

J Horwitz - Experimental eye research, 2003 - Elsevier
Alpha A and alpha B-crystallins are a major protein component of the mammalian eye lens.
Being a member of the small heat-shock protein family they possess chaperone-like …

Biology of inherited cataracts and opportunities for treatment

A Shiels, JF Hejtmancik - Annual review of vision science, 2019 - annualreviews.org
Cataract, the clinical correlate of opacity or light scattering in the eye lens, is usually caused
by the presence of high-molecular-weight (HMW) protein aggregates or disruption of the …

Intermediate filament proteins and their associated diseases

MB Omary, PA Coulombe… - New England Journal of …, 2004 - Mass Medical Soc
Intermediate filaments provide scaffolding for the cell and protect it against stress. This
comprehensive review points out that there are more than 100 intermediate filament genes …

Congenital cataracts and their molecular genetics

JF Hejtmancik - Seminars in cell & developmental biology, 2008 - Elsevier
Cataract can be defined as any opacity of the crystalline lens. Congenital cataract is
particularly serious because it has the potential for inhibiting visual development, resulting in …

Small heat-shock proteins: important players in regulating cellular proteostasis

TM Treweek, S Meehan, H Ecroyd… - Cellular and molecular life …, 2015 - Springer
Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone
proteins that play a critical role in mitigating and preventing protein aggregation under stress …

Insights on human small heat shock proteins and their alterations in diseases

B Tedesco, R Cristofani, V Ferrari, M Cozzi… - Frontiers in molecular …, 2022 - frontiersin.org
The family of the human small Heat Shock Proteins (HSPBs) consists of ten members of
chaperones (HSPB1-HSPB10), characterized by a low molecular weight and capable of …

Genetics of crystallins: cataract and beyond

J Graw - Experimental eye research, 2009 - Elsevier
The crystallins were discovered more than 100 years ago by Mörner (1893. Untersuchungen
der Proteinsubstanzen in den lichtbrechenden Medien des Auges. Z. Physiol. Chem. 18, 61 …

Desmin‐related myopathy

KY van Spaendonck‐Zwarts, L van Hessem… - Clinical …, 2011 - Wiley Online Library
van Spaendonck‐Zwarts KY, van Hessem L, Jongbloed JDH, de Walle HEK, Capetanaki Y,
van der Kooi AJ, van Langen IM, van den Berg MP, van Tintelen JP. Desmin‐related …

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract

L Bu, Y Jin, Y Shi, R Chu, A Ban, H Eiberg, L Andres… - Nature …, 2002 - nature.com
Abstract Congenital cataracts cause 10–30% of all blindness in children, with one-third of
cases estimated to have a genetic cause 1. Lamellar cataract is the most common type of …