Genetic alterations of<i>VWA1</i>: a new link between extracellular matrix and neuromuscular diseases
نویسندگان
چکیده
This scientific commentary refers to ‘Bi-allelic truncating mutations in VWA1 cause neuromyopathy’, by Deschauer et al. (doi:10.1093/brain/awaa418) and ‘An ancestral 10-bp repeat expansion causes recessive hereditary motor neuropathy’, Pagnamenta (doi:10.1093/brain/awaa420)
منابع مشابه
MISP: The missing link between extracellular matrix and astral microtubules
Positioning of the cell division plane is critically important for tissue morphogenesis and architecture. 1 it is therefore not surprising that mitotic spindle orientation must be tightly regulated in living tissues, a phenomenon that is also observed in cells cultured in vitro. Because of the amenability of cultured cells to molecular and physical manipulation, many investigators have used suc...
متن کاملGenetic Modifiers for Neuromuscular Diseases.
Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. ...
متن کاملVitamin A Deficiency and Alterations in the Extracellular Matrix
Vitamin A or retinol which is the natural precursor of several biologically active metabolites can be considered the most multifunctional vitamin in mammals. Its deficiency is currently, along with protein malnutrition, the most serious and common nutritional disorder worldwide. It is necessary for normal embryonic development and postnatal tissue homeostasis, and exerts important effects on ce...
متن کاملExtracellular matrix alterations in the Peyronie’s disease☆
Peyronie's disease is characterized by fibrous plaque formation of the tunica albuginea, causing penile deformity and fertility problems. The aim of the present study was to investigate alterations in the extracellular matrix in Peyronie's disease. The study used tissues collected by surgical procedure from individuals that presented a well-established disease, while control samples were obtain...
متن کاملRole of extracellular matrix in pancreatic diseases.
Accessible online at: http://BioMedNet.com/karger The extracellular matrix (ECM) has been traditionally thought of as the structurally stable material that provides support for cells and tissues. However, a number of discoveries over the past decades have changed this view. First, it has been shown that four major classes of macromolecules – the collagens, proteoglycans, structural glycoprotein...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Brain
سال: 2021
ISSN: ['1460-2156', '0006-8950']
DOI: https://doi.org/10.1093/brain/awaa464