Neuronal calcium signaling: function and dysfunction
Abstract Calcium (Ca 2+) is an universal second messenger that regulates the most
important activities of all eukaryotic cells. It is of critical importance to neurons as it …
important activities of all eukaryotic cells. It is of critical importance to neurons as it …
The Plasma Membrane Calcium ATPases and Their Role as Major New Players in Human Disease
N Stafford, C Wilson, D Oceandy… - Physiological …, 2017 - journals.physiology.org
The Ca2+ extrusion function of the four mammalian isoforms of the plasma membrane
calcium ATPases (PMCAs) is well established. There is also ever-increasing detail known of …
calcium ATPases (PMCAs) is well established. There is also ever-increasing detail known of …
The plasma membrane calcium pump in health and disease
The Ca2+ ATP ases of the plasma membrane (PMCA pumps) export Ca2+ from all
eukaryotic cells. In mammals they are the products of four separate genes. PMCA types 1 …
eukaryotic cells. In mammals they are the products of four separate genes. PMCA types 1 …
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Many neurological conditions are caused by immensely heterogeneous gene mutations.
The diagnostic process is often long and complex with most patients undergoing multiple …
The diagnostic process is often long and complex with most patients undergoing multiple …
Calcium in health and disease
Evolution has exploited the chemical properties of Ca 2+, which facilitate its reversible
binding to the sites of irregular geometry offered by biological macromolecules, to select it as …
binding to the sites of irregular geometry offered by biological macromolecules, to select it as …
Primary aldosteronism: molecular medicine meets public health
EAB Azizan, WM Drake, MJ Brown - Nature Reviews Nephrology, 2023 - nature.com
Primary aldosteronism is the most common single cause of hypertension and is potentially
curable when only one adrenal gland is the culprit. The importance of primary aldosteronism …
curable when only one adrenal gland is the culprit. The importance of primary aldosteronism …
Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias
A Matilla-Dueñas, T Ashizawa, A Brice, S Magri… - The Cerebellum, 2014 - Springer
Intensive scientific research devoted in the recent years to understand the molecular
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …
mechanisms or neurodegeneration in spinocerebellar ataxias (SCAs) are identifying new …
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
JAN Meester, G Vandeweyer, I Pintelon… - Genetics in …, 2017 - nature.com
Purpose: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an
autosomal dominant manner, but rare X-linked families have been described. So far, the …
autosomal dominant manner, but rare X-linked families have been described. So far, the …
Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
B Al-Mubarak, M Abouelhoda, A Omar, H AlDhalaan… - Scientific reports, 2017 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …
Regulation of cell calcium and role of plasma membrane calcium ATPases
Abstract The plasma membrane Ca 2+ ATPase (PMCA pump) is a member of the
superfamily of P-type pumps. It has 10 transmembrane helices and 2 cytosolic loops, one of …
superfamily of P-type pumps. It has 10 transmembrane helices and 2 cytosolic loops, one of …