Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
KS Hruska, ME LaMarca, CR Scott… - Human mutation, 2008 - Wiley Online Library
Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of
glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid …
glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid …
Lysosomal storage disorders in the newborn
O Staretz-Chacham, TC Lang, ME LaMarca… - …, 2009 - publications.aap.org
Lysosomal storage disorders are rare inborn errors of metabolism, with a combined
incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom …
incidence of 1 in 1500 to 7000 live births. These relatively rare disorders are seldom …
Glucocerebrosidase mutations in subjects with parkinsonism
A Lwin, E Orvisky, O Goker-Alpan, ME LaMarca… - Molecular genetics and …, 2004 - Elsevier
Recent studies showing an association between glucocerebrosidase deficiency and
parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene …
parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene …
Parkinsonism among Gaucher disease carriers
O Goker-Alpan, R Schiffmann, ME LaMarca… - Journal of medical …, 2004 - jmg.bmj.com
An association between Gaucher disease and Parkinson disease has been demonstrated
by the concurrence of Gaucher disease and parkinsonism in rare patients and the …
by the concurrence of Gaucher disease and parkinsonism in rare patients and the …
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
N Tayebi, J Walker, B Stubblefield, E Orvisky… - Molecular genetics and …, 2003 - Elsevier
Among the phenotypes associated with Gaucher disease, the deficiency of
glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism …
glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism …
Deficiency in mouse oxytocin prevents milk ejection, but not fertility or parturition
WS Young III, E Shepard, J Amico… - Journal of …, 1996 - Wiley Online Library
Oxytocin is a nonapeptide hormone that participates in the regulation of parturition and
lactation. It has also been implicated in various behaviors, such as mating and maternal, and …
lactation. It has also been implicated in various behaviors, such as mating and maternal, and …
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype
E Orvisky, JK Park, ME LaMarca, EI Ginns… - Molecular genetics and …, 2002 - Elsevier
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, presents with a
wide spectrum of clinical manifestations including neuronopathic and non-neuronopathic …
wide spectrum of clinical manifestations including neuronopathic and non-neuronopathic …
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
S Tsuji, BM Martin, JA Barranger… - Proceedings of the …, 1988 - National Acad Sciences
Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with
type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine …
type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine …
[PDF][PDF] Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
N Tayebi, BK Stubblefield, JK Park, E Orvisky… - The American Journal of …, 2003 - cell.com
Gaucher disease results from an autosomal recessive deficiency of the lysosomal enzyme
glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 …
glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 …
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease
W Zheng, J Padia, DJ Urban… - Proceedings of the …, 2007 - National Acad Sciences
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by
mutations in the glucocerebrosidase gene. Missense mutations result in reduced enzyme …
mutations in the glucocerebrosidase gene. Missense mutations result in reduced enzyme …