[HTML][HTML] A review of Gaucher disease pathophysiology, clinical presentation and treatments
J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …
Exploring the genetic basis of early-onset chronic kidney disease
A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
Focal segmental glomerulosclerosis
VD D'Agati, FJ Kaskel, RJ Falk - New England Journal of …, 2011 - Mass Medical Soc
Focal segmental glomerulosclerosis, which is characterized by progressive glomerular
scarring, accounts for about 20% of cases of the nephrotic syndrome in children and 40% in …
scarring, accounts for about 20% of cases of the nephrotic syndrome in children and 40% in …
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function
P Saftig, J Klumperman - Nature reviews Molecular cell biology, 2009 - nature.com
Lysosomes are the primary catabolic compartments of eukaryotic cells. They degrade
extracellular material that has been internalized by endocytosis and intracellular …
extracellular material that has been internalized by endocytosis and intracellular …
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …
[HTML][HTML] Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
Although the causes of Parkinson's disease (PD) are thought to be primarily environmental,
recent studies suggest that a number of genes influence susceptibility. Using targeted case …
recent studies suggest that a number of genes influence susceptibility. Using targeted case …
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
S Lovric, S Ashraf, W Tan… - Nephrology Dialysis …, 2016 - academic.oup.com
Steroid-resistant nephrotic syndrome (SRNS) represents the second most frequent cause of
chronic kidney disease in the first three decades of life. It manifests histologically as focal …
chronic kidney disease in the first three decades of life. It manifests histologically as focal …
Protein Sorting at the trans-Golgi Network
The trans-Golgi network (TGN) is an important cargo sorting station within the cell where
newly synthesized proteins are packaged into distinct transport carriers that are targeted to …
newly synthesized proteins are packaged into distinct transport carriers that are targeted to …
Lysosomal storage diseases—the horizon expands
RMN Boustany - Nature Reviews Neurology, 2013 - nature.com
Since the discovery of the lysosome in 1955, advances have been made in understanding
the key roles and functions of this organelle. The concept of lysosomal storage diseases …
the key roles and functions of this organelle. The concept of lysosomal storage diseases …