Phosphoinositides: tiny lipids with giant impact on cell regulation

T Balla - Physiological reviews, 2013 - journals.physiology.org
Phosphoinositides (PIs) make up only a small fraction of cellular phospholipids, yet they
control almost all aspects of a cell's life and death. These lipids gained tremendous research …

Phosphoinositides in cell regulation and membrane dynamics

G Di Paolo, P De Camilli - Nature, 2006 - nature.com
Inositol phospholipids have long been known to have an important regulatory role in cell
physiology. The repertoire of cellular processes known to be directly or indirectly controlled …

Protein tyrosine phosphatases in the human genome

A Alonso, J Sasin, N Bottini, I Friedberg, I Friedberg… - Cell, 2004 - cell.com
Tyrosine phosphorylation is catalyzed by protein tyrosine kinases, which are represented by
90 genes in the human genome. Here, we present the set of 107 genes in the human …

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

P Pasinelli, RH Brown - Nature Reviews Neuroscience, 2006 - nature.com
Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron
degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron …

Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success

V Timmerman, AV Strickland, S Züchner - Genes, 2014 - mdpi.com
Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

The genetic basis of non-syndromic intellectual disability: a review

L Kaufman, M Ayub, JB Vincent - Journal of neurodevelopmental disorders, 2010 - Springer
Intellectual disability (ID), also referred to as mental retardation (MR), is frequently the result
of genetic mutation. Where ID is present together with additional clinical symptoms or …

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS

CY Chow, JE Landers, SK Bergren, PC Sapp… - The American Journal of …, 2009 - cell.com
Mutations of the lipid phosphatase FIG4 that regulates PI (3, 5) P 2 are responsible for the
recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of …

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

CY Chow, Y Zhang, JJ Dowling, N Jin, M Adamska… - Nature, 2007 - nature.com
Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle
trafficking in eukaryotic cells. Proteins that bind specific phosphoinositides mediate …

Membrane trafficking in health and disease

R Yarwood, J Hellicar… - Disease models & …, 2020 - journals.biologists.com
Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth …

A De Sandre-Giovannoli, M Chaouch, S Kozlov… - The American Journal of …, 2002 - cell.com
The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically
heterogeneous hereditary motor and sensory neuropathies, which are mainly characterized …