Metabolic control of cell death
Background For several decades, intermediate metabolism and signal transduction have
been considered two independent entities. On one side stood the catabolic and anabolic …
been considered two independent entities. On one side stood the catabolic and anabolic …
Niemann-Pick disease type C
MT Vanier - Orphanet journal of rare diseases, 2010 - Springer
Abstract Niemann-Pick C disease (NP-C) is a neurovisceral atypical lysosomal lipid storage
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …
disorder with an estimated minimal incidence of 1/120 000 live births. The broad clinical …
Saturation variant interpretation using CRISPR prime editing
High-throughput functional characterization of genetic variants in their endogenous locus
has so far been possible only with methods that rely on homology-directed repair, which are …
has so far been possible only with methods that rely on homology-directed repair, which are …
Structural basis for cholesterol transport-like activity of the hedgehog receptor patched
Hedgehog protein signals mediate tissue patterning and maintenance by binding to and
inactivating their common receptor Patched, a 12-transmembrane protein that otherwise …
inactivating their common receptor Patched, a 12-transmembrane protein that otherwise …
Niemann–Pick disease type C
MT Vanier, G Millat - Clinical genetics, 2003 - Wiley Online Library
Niemann‐Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage
with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is …
with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is …
Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience
CA Valencia, A Husami, J Holle, JA Johnson… - Frontiers in …, 2015 - frontiersin.org
Background There are limited reports of the use of whole exome sequencing (WES) as a
clinical diagnostic tool. Moreover, there are no reports addressing the cost burden …
clinical diagnostic tool. Moreover, there are no reports addressing the cost burden …
Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3 …
JP Davies, YA Ioannou - Journal of Biological Chemistry, 2000 - ASBMB
The Niemann-Pick C1 (NPC1) protein is predicted to be a polytopic glycoprotein, and it
contains a region with extensive homology to the sterol-sensing domains (SSD) of 3-hydroxy …
contains a region with extensive homology to the sterol-sensing domains (SSD) of 3-hydroxy …
The Niemann-Pick type diseases–A synopsis of inborn errors in sphingolipid and cholesterol metabolism
FW Pfrieger - Progress in lipid research, 2023 - Elsevier
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …
underlying mechanisms and the development of efficient therapies represent formidable …
Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1
WD Park, JF O'Brien, PA Lundquist, DL Kraft… - Human …, 2003 - Wiley Online Library
The two known complementation groups of Niemann‐Pick Type C disease, NPC1 and
NPC2, result from non‐allelic protein defects. Both the NPC1 and NPC2 (HE1) gene …
NPC2, result from non‐allelic protein defects. Both the NPC1 and NPC2 (HE1) gene …
Long-term miglustat therapy in children with Niemann-Pick disease type C
MC Patterson, D Vecchio, E Jacklin… - Journal of child …, 2010 - journals.sagepub.com
Niemann-Pick disease type C is a rare, genetic disease associated with impaired
intracellular lipid trafficking and progressive neurological symptoms. Miglustat slowed …
intracellular lipid trafficking and progressive neurological symptoms. Miglustat slowed …