[HTML][HTML] Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited
deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is …
deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is …
[HTML][HTML] Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
MA Tischfield, HN Baris, C Wu, G Rudolph… - Cell, 2010 - cell.com
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-
specific β-tubulin isotype III, result in a spectrum of human nervous system disorders that we …
specific β-tubulin isotype III, result in a spectrum of human nervous system disorders that we …
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management
Background: Mutations in the PTEN gene cause two disorders that predispose to cancer,
Bannayan–Riley–Ruvalcaba and Cowden syndromes. Some patients with a PTEN mutation …
Bannayan–Riley–Ruvalcaba and Cowden syndromes. Some patients with a PTEN mutation …
[HTML][HTML] VarElect: the phenotype-based variation prioritizer of the GeneCards Suite
Background Next generation sequencing (NGS) provides a key technology for deciphering
the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens …
the genetic underpinnings of human diseases. Typical NGS analyses of a patient depict tens …
PI (3, 4) P2-mediated cytokinetic abscission prevents early senescence and cataract formation
INTRODUCTION In response to aging, senescence plays a major role in the onset of various
degenerative diseases, including the slow development of cataracts, a clouding of the eye …
degenerative diseases, including the slow development of cataracts, a clouding of the eye …
[HTML][HTML] Survival benefit for individuals with constitutional mismatch repair deficiency undergoing surveillance
PURPOSE Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer
predisposition syndrome characterized by early-onset synchronous and metachronous …
predisposition syndrome characterized by early-onset synchronous and metachronous …
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
L Haer-Wigman, H Newman, R Leibu… - Human molecular …, 2015 - academic.oup.com
Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is
clinically and genetically heterogeneous and can appear as syndromic or non-syndromic …
clinically and genetically heterogeneous and can appear as syndromic or non-syndromic …
[HTML][HTML] Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes
the phosphorylation of phosphatidylinositol (PI) into PI (3) P and the phosphorylation of PI …
the phosphorylation of phosphatidylinositol (PI) into PI (3) P and the phosphorylation of PI …
Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency
Primary ovarian insufficiency (POI) is characterized by amenorrhea and loss or dysfunction
of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive …
of ovarian follicles prior to the age of 40. POI has been associated with autosomal recessive …
[HTML][HTML] Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
MW Friederich, S Timal, CA Powell… - Nature …, 2018 - nature.com
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids
by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt …
by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt …