scholarly journals Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal Cats

2015 ◽  
Vol 56 (9) ◽  
pp. 5299 ◽  
Author(s):  
Ron Ofri ◽  
Christopher M. Reilly ◽  
David J. Maggs ◽  
Paul G. Fitzgerald ◽  
Yael Shilo-Benjamini ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Early Onset ◽  
Autosomal Recessive

Mutations inCRB1are a Relatively Common Cause of Autosomal Recessive Early-Onset Retinal Degeneration in the Israeli and Palestinian Populations

2013 ◽  
Vol 54 (3) ◽  
pp. 2068 ◽  
Author(s):  
Avigail Beryozkin ◽  
Lina Zelinger ◽  
Dikla Bandah-Rozenfeld ◽  
Anat Harel ◽  
Tim A. Strom ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Common Cause

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3

1995 ◽  
Vol 4 (8) ◽  
pp. 1355-1364 ◽  
Author(s):  
Marc Cruts ◽  
Hubert Backhovens ◽  
Jessie Theuns ◽  
Robert F. Clark ◽  
Denis Le Paslier ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Physical Characterization ◽  
Early Onset Alzheimer’S Disease

scholarly journals Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

2018 ◽  
Vol 19 (10) ◽  
pp. 3099 ◽  
Author(s):  
Anna Malekkou ◽  
Maura Samarani ◽  
Anthi Drousiotou ◽  
Christina Votsi ◽  
Sandro Sonnino ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Biochemical Characterization ◽  
Fold Increase ◽  
Loss Of Function ◽  
Spastic Paraplegia ◽  
Spastic Ataxia ◽  
Autosomal Recessive Cerebellar Ataxia ◽  
Compensatory Effect

The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose. Mutations in GBA2 have been associated with the development of neurological disorders such as autosomal recessive cerebellar ataxia, hereditary spastic paraplegia, and Marinesco-Sjogren-Like Syndrome. Our group has previously identified the GBA2 c.1780G>C [p.Asp594His] missense mutation, in a Cypriot consanguineous family with spastic ataxia. In this study, we carried out a biochemical characterization of lymphoblastoid cell lines (LCLs) derived from three patients of this family. We found that the mutation strongly reduce NLGase activity both intracellularly and at the plasma membrane level. Additionally, we observed a two-fold increase of GlcCer content in LCLs derived from patients compared to controls, with the C16 lipid being the most abundant GlcCer species. Moreover, we showed that there is an apparent compensatory effect between NLGase and the lysosomal glucosylceramidase (GCase), since we found that the activity of GCase was three-fold higher in LCLs derived from patients compared to controls. We conclude that the c.1780G>C mutation results in NLGase loss of function with abolishment of the enzymatic activity and accumulation of GlcCer accompanied by a compensatory increase in GCase.

scholarly journals Single Molecule FRET Characterization of Oligomers from Alpha-Synuclein Early Onset Parkinson's Disease Mutants

2014 ◽  
Vol 106 (2) ◽  
pp. 269a ◽  
Author(s):  
Laura Tosatto ◽  
Mathew H. Horrocks ◽  
Cremades Nunilo ◽  
Tim Guilliams ◽  
Mauro Dalla Serra ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Molecule ◽  
Early Onset ◽  
Alpha Synuclein ◽  
Single Molecule Fret ◽  
Early Onset Parkinson’S Disease

scholarly journals A missense mutation inASRGL1is involved in causing autosomal recessive retinal degeneration

2016 ◽  
pp. ddw113 ◽  
Author(s):  
Pooja Biswas ◽  
Venkata Ramana Murthy Chavali ◽  
Giulia Agnello ◽  
Everett Stone ◽  
Christina Chakarova ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Missense Mutation ◽  
Autosomal Recessive
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