Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

1999 ◽  
Vol 25 (5) ◽  
pp. 287-298 ◽  
Author(s):  
Kateřina Hodaňová ◽  
Martin Hřebı́ček ◽  
Markéta Červenková ◽  
Lenka Mrázová ◽  
Lenka Vepřeková ◽  
...  
Keyword(s):  
Mutation Profile ◽  
Glucocerebrosidase Gene

scholarly journals Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients

2002 ◽  
Vol 20 (3) ◽  
pp. 234-235 ◽  
Author(s):  
Mirella Filocamo ◽  
Raffaella Mazzotti ◽  
Marina Stroppiano ◽  
Marco Seri ◽  
Fiorina Giona ◽  
...  
Keyword(s):  
Mutation Profile ◽  
Glucocerebrosidase Gene

scholarly journals Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Etsuro Nakanishi ◽  
Norihito Uemura ◽  
Hisako Akiyama ◽  
Masato Kinoshita ◽  
Sawamura Masanori ◽  
...  
Keyword(s):  
Microglial Activation ◽  
Biochemical Analysis ◽  
Neuronal Cell ◽  
Cell Loss ◽  
Pathological Changes ◽  
Gaucher's Disease ◽  
Gaucher’S Disease ◽  
Short Lifespan ◽  
Behavioral Abnormalities ◽  
Glucocerebrosidase Gene

AbstractHomozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn) aggregates. We previously reported that gba1 knockout (KO) medaka exhibited glucosylceramide accumulation and neuronopathic GD phenotypes, including short lifespan, the dopaminergic and noradrenergic neuronal cell loss, microglial activation, and swimming abnormality, with asyn accumulation in the brains. A recent study reported that deletion of GBA2, non-lysosomal glucocerebrosidase, in a non-neuronopathic GD mouse model rescued its phenotypes. In the present study, we generated gba2 KO medaka and examined the effect of Gba2 deletion on the phenotypes of gba1 KO medaka. The Gba2 deletion in gba1 KO medaka resulted in the exacerbation of glucosylceramide accumulation and no improvement in neuronopathic GD pathological changes, asyn accumulation, or swimming abnormalities. Meanwhile, though gba2 KO medaka did not show any apparent phenotypes, biochemical analysis revealed asyn accumulation in the brains. gba2 KO medaka showed a trend towards an increase in sphingolipids in the brains, which is one of the possible causes of asyn accumulation. In conclusion, this study demonstrated that the deletion of Gba2 does not rescue the pathological changes or behavioral abnormalities of gba1 KO medaka, and GBA2 represents a novel factor affecting asyn accumulation in the brains.

scholarly journals Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data

Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2389
Author(s):  
Yun Mi Choi ◽  
Jinyeong Lim ◽  
Min Ji Jeon ◽  
Yu-Mi Lee ◽  
Tae-Yon Sung ◽  
...  
Keyword(s):  
Somatic Mutations ◽  
The Cancer Genome Atlas ◽  
Sequencing Analysis ◽  
Poor Overall Survival ◽  
Sdhb Mutation ◽  
Targeted Next Generation Sequencing ◽  
Mutation Profile ◽  
Next Generation Sequencing Analysis ◽  
Number Variation ◽  
Frequent Mutations

In pheochromocytoma and paraganglioma (PPGL), germline or somatic mutations in one of the known susceptibility genes are identified in up to 60% patients. However, the peculiar genetic events that drive the aggressive behavior including metastasis in PPGL are poorly understood. We performed targeted next-generation sequencing analysis to characterize the mutation profile in fifteen aggressive PPGL patients and compared accessible data of aggressive PPGLs from The Cancer Genome Atlas (TCGA) with findings of our cohort. A total of 115 germline and 34 somatic variants were identified with a median 0.58 per megabase tumor mutation burden in our cohort. The most frequent mutation was SDHB germline mutation (27%) and the second frequent mutations were somatic mutations for SETD2, NF1, and HRAS (13%, respectively). Patients were subtyped into three categories based on the kind of mutated genes: pseudohypoxia (n = 5), kinase (n = 5), and unknown (n = 5) group. In copy number variation analysis, deletion of chromosome arm 1p harboring SDHB gene was the most frequently observed. In our cohort, SDHB mutation and pseudohypoxia subtype were significantly associated with poor overall survival. In conclusion, subtyping of mutation profile can be helpful in aggressive PPGL patients with heterogeneous prognosis to make relevant follow-up plan and achieve proper treatment.

scholarly journals Mutation Profile of Resected EGFR ‐Mutated Lung Adenocarcinoma by Next‐Generation Sequencing

2019 ◽  
Vol 24 (10) ◽  
pp. 1368-1374 ◽  
Author(s):  
Ze‐Rui Zhao ◽  
Yao‐Bin Lin ◽  
Calvin S.H. Ng ◽  
Rong Zhang ◽  
Xue Wu ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Lung Adenocarcinoma ◽  
Next Generation ◽  
Mutation Profile ◽  
Egfr Mutated ◽  
Generation Sequencing

scholarly journals Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

2019 ◽  
Vol 45 (1) ◽  
Author(s):  
Elena Manara ◽  
Stefano Paolacci ◽  
Fabiana D’Esposito ◽  
Andi Abeshi ◽  
Lucia Ziccardi ◽  
...  
Keyword(s):  
Bardet Biedl Syndrome ◽  
Italian Study ◽  
Mutation Profile

scholarly journals Concurrent Oncogene Mutation Profile in Chinese Patients With Stage Ib Lung Adenocarcinoma

Medicine ◽  
2014 ◽  
Vol 93 (29) ◽  
pp. e296 ◽  
Author(s):  
Ying-Sheng Wen ◽  
Ling Cai ◽  
Xue-wen Zhang ◽  
Jian-fei Zhu ◽  
Zi-chen Zhang ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Chinese Patients ◽  
Stage Ib ◽  
Mutation Profile

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

2014 ◽  
Vol 59 (4) ◽  
pp. 223-228 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Mamta Muranjan ◽  
Usha Dave ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Glucocerebrosidase Gene
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