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https://www.readbyqxmd.com/read/28925361/generation-of-a-homozygous-gba-deletion-human-embryonic-stem-cell-line
#1
Anna Lisa Gündner, Claas Aiko Meyer, Stefan Aigner, Klaus Christensen, Christoph Patsch, Ravi Jagasia, Karlheinz Baumann, Mark Burcin
We describe the generation of a biallelic GBA deletion human embryonic stem cell line using zinc finger nuclease-mediated gene targeting. The homozygous targeting of exon 4 of the GBA locus leads to a complete loss of glucocerebrosidase (GCase) protein expression.
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28899090/synthesis-and-sensory-characteristics-of-kokumi-%C3%AE-glu-n-phe-in-the-presence-of-glutamine-and-phenylalanine-glutaminase-from-bacillus-amyloliquefaciens-or-aspergillus-oryzae-as-the-catalyst
#2
Juan Yang, Dongxiao Sun-Waterhouse, Chun Cui, Keming Dong, Wei Wang
The transpeptidase activity of glutaminase from Bacillus amyloliquefaciens (GBA) and Aspergillus oryzae (GAO) to yield γ-[Glu]n-Phe peptides were verified for the first time. In the presence of Gln and Phe, γ-Glu-Phe and γ-Glu-γ-Glu-Phe were synthesized by GAO, and γ-Glu-Phe, γ-Glu-γ-Glu-Phe, γ-Glu-γ-Glu-γ-Glu-Phe, γ-Glu-γ-Glu-γ-Glu-γ-Glu-Phe and γ-Glu-γ-Glu-γ-Glu-γ-Glu-γ-Glu-Phe were synthesized by GBA. The Km values for the transpeptidation catalysed by GBA and GAO were 47.88 and 153.92 mM (Phe as the acceptor), 84...
September 13, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28894968/lysosomal-defects-in-atp13a2-and-gba-associated-familial-parkinson-s-disease
#3
Shigeto Sato, Yuanzhe Li, Nobutaka Hattori
Genes encoding lysosomal proteins, such as ATP13A2 and GBA, are associated with familial Parkinson's disease (PD). Heterozygous mutations in GBA are strongly associated with familial PD. ATP13A2, which encodes a lysosomal P-type ATPase, has been identified as the causative gene for Kufor-Rakeb syndrome. While lysosomal dysfunction due to these mutations exhibited early onset Parkinsonism, each animal model demonstrated different pathological mechanisms. Clinicogenetic and animal model studies recently identified several lysosomal alterations that play a role in the pathogenesis of PD...
September 11, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28890071/serum-lipid-alterations-in-gba-associated-parkinson-s-disease
#4
Leonor Correia Guedes, Robin Barry Chan, Marcos António Gomes, Vasco A Conceição, Raquel Bouça Machado, Tiago Soares, Yimeng Xu, Paulo Gaspar, Joao André Carriço, Roy N Alcalay, Joaquim J Ferreira, Tiago Fleming Outeiro, Gabriel Miltenberger-Miltenyi
INTRODUCTION: Mutations in the GBA gene, encoding for the lysosomal enzyme glucocerebrosidase, are associated with Gaucher disease. Alterations in plasma sphingolipids have been reported in Gaucher, and similarly in brain extracts in Lewy body disease. As GBA mutations are prevalent risk factors for Parkinson's disease and overlap of molecular pathways are presumable, here we assessed the lipid profiles in Parkinson's patients with and without GBA mutations. METHODS: We sequenced all GBA exons in 415 Parkinson's patients, previously genotyped for LRRK2...
September 1, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28862745/diagnostic-exome-sequencing-in-early-onset-parkinson-s-disease-confirms-vps13c-as-a-rare-cause-of-autosomal-recessive-parkinson-s-disease
#5
B Schormair, D Kemlink, B Mollenhauer, O Fiala, G Machetanz, J Roth, R Berutti, T M Strom, B Haslinger, C Trenkwalder, D Zahorakova, P Martasek, E Ruzicka, J Winkelmann
Parkinson's disease (PD) is a genetically heterogeneous disorder and new putative disease genes are discovered constantly. Therefore, whole exome sequencing could be an efficient approach to genetic testing in PD. To evaluate its performance in early-onset sporadic PD, we performed diagnostic exome sequencing in 80 individuals with manifestation of PD symptoms at age 40 or earlier and a negative family history of PD. Variants in validated and candidate disease genes and risk factors for PD and atypical Parkinson syndromes were annotated, followed by further analysis for selected variants...
September 1, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28834018/gba-mutations-in-parkinson-disease-earlier-death-but-similar-neuropathological-features
#6
C H Adler, T G Beach, H A Shill, J N Caviness, E Driver-Dunckley, M N Sabbagh, A Patel, L I Sue, G Serrano, S A Jacobson, K Davis, C M Belden, B N Dugger, S A Paciga, A R Winslow, W D Hirst, J G Hentz
BACKGROUND AND PURPOSE: Mutations in the glucocerebrosidase (GBA) gene are known to be a risk factor for Parkinson's disease (PD). Data on clinicopathological correlation are limited. The purpose of this study was to determine the clinicopathological findings that might distinguish PD cases with and without mutations in the GBA gene. METHODS: Data from the Arizona Study of Aging and Neurodegenerative Disorders were used to identify autopsied PD cases that did or did not have a GBA gene mutation...
August 17, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28830825/the-gba-variant-e326k-is-associated-with-parkinson-s-disease-and-explains-a-genome-wide-association-signal
#7
Victoria Berge-Seidl, Lasse Pihlstrøm, Jodi Maple-Grødem, Lars Forsgren, Jan Linder, Jan Petter Larsen, Ole-Bjørn Tysnes, Mathias Toft
OBJECTIVE: Coding variants in the GBA gene have been identified as the numerically most important genetic risk factors for Parkinson's disease (PD). In addition, genome-wide association studies (GWAS) have identified associations with PD in the SYT11-GBA region on chromosome 1q22, but the relationship to GBA coding variants have remained unclear. The aim of this study was to sequence the complete GBA gene in a clinical cohort and to investigate whether coding variants within the GBA gene may be driving reported association signals...
August 19, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28819579/dual-task-performance-in-gba-parkinson-s-disease
#8
Karin Srulijes, Kathrin Brockmann, Senait Ogbamicael, Markus A Hobert, Ann-Kathrin Hauser, Claudia Schulte, Jasmin Fritzen, Michael Schwenk, Thomas Gasser, Daniela Berg, Walter Maetzler
INTRODUCTION: Parkinson's disease patients carrying a heterozygous mutation in the gene glucocerebrosidase (GBA-PD) show faster motor and cognitive decline than idiopathic Parkinson's disease (iPD) patients, but the mechanisms behind this observation are not well understood. Successful dual tasking (DT) requires a smooth integration of motor and nonmotor operations. This study compared the DT performances between GBA-PD and iPD patients. METHODS: Eleven GBA-PD patients (p...
2017: Parkinson's Disease
https://www.readbyqxmd.com/read/28802933/cognition-in-parkinson-s-disease
#9
Claire O'Callaghan, Simon J G Lewis
Cognitive decline is now recognized as a common nonmotor symptom of Parkinson's disease, and it has been the subject of increasing research in recent decades. Cognitive deficits in Parkinson's disease can be distinguished as dopaminergically mediated executive dysfunction seen in the milder stages vs a global dementia syndrome that can occur with disease progression. The neural basis of these deficits has been explored from the perspective of multimodal imaging techniques to measure the structural, functional, and metabolic correlates of cognitive decline in Parkinson's disease...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28802919/nonmotor-signs-in-genetic-forms-of-parkinson-s-disease
#10
Meike Kasten, Connie Marras, Christine Klein
Although only a minority (i.e., ~5%) of Parkinson's disease (PD) cases is due to well-defined genetic causes, important clues about the common, "idiopathic" PD (iPD) can be garnered from monogenic model diseases. Nonmotor signs (NMS) are also present in monogenic PD and reviewed in this chapter for the confirmed PD genes SNCA, LRRK2, VPS35, Parkin, PINK1, DJ-1, and the risk factor gene GBA. Within the context of the MDSGene database (www.mdsgene.org), we performed a systematic literature search and extracted information on cognitive decline, depression, psychotic signs and symptoms, autonomic signs and symptoms, anxiety, sleep disorder, and olfactory impairment...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28777757/gba-associated-parkinson-s-disease-progression-in-a-deep-brain-stimulation-cohort
#11
Vanessa Lythe, Dilan Athauda, Jennifer Foley, Niccolò E Mencacci, Marjan Jahanshahi, Lisa Cipolotti, Jonathan Hyam, Ludvic Zrinzo, Marwan Hariz, John Hardy, Patricia Limousin, Tom Foltynie
BACKGROUND: Recent evidence suggests that glucosidase beta acid (GBA) mutations predispose Parkinson's disease (PD) patients to a greater burden of cognitive impairment and non-motor symptoms. This emerging knowledge has not yet been considered in patients who have undergone deep brain stimulation (DBS); a surgery that is generally contraindicated in those with cognitive deficits. OBJECTIVE: To explore the long-term phenotypic progression of GBA-associated PD, in a DBS cohort...
August 4, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28770445/actinoalloteichus-fjordicus-sp-nov-isolated-from-marine-sponges-phenotypic-chemotaxonomic-and-genomic-characterisation
#12
Imen Nouioui, Christian Rückert, Joost Willemse, Gilles P van Wezel, Hans-Peter Klenk, Tobias Busche, Jörn Kalinowski, Harald Bredholt, Sergey B Zotchev
Two actinobacterial strains, ADI 127-17(T) and GBA 129-24, isolated from marine sponges Antho dichotoma and Geodia barretti, respectively, collected at the Trondheim fjord in Norway, were the subjects of a polyphasic study. According to their 16S rRNA gene sequences, the new isolates were preliminarily classified as belonging to the genus Actinoalloteichus. Both strains formed a distinct branch, closely related to the type strains of Actinoalloteichus hoggarensis and Actinoalloteichus hymeniacidonis, within the evolutionary radiation of the genus Actinoalloteichus in the 16S rRNA gene-based phylogenetic tree...
August 2, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/28763689/investigation-of-novel-pharmacological-chaperones-for-gaucher-disease
#13
Buge Yilmazer, Z Begum Yagci, Emre Bakar, Burcu Ozden, Kutlu Ulgen, Elif Ozkirimli
Beta-Glucocerebrosidase (GBA) is a lysosomal protein that is responsible for the hydrolysis of glycosylceramide into glucose and ceramide. Mutations in GBA lead to the accumulation of glycosylceramide in the lysosome causing an enlargement of the spleen and the liver and skeletal deformations. This disease is called Gaucher Disease. Enzyme replacement therapies and substrate reduction methods that are used to treat Gaucher Disease fail when the disease is neuropathic because they fail to pass the blood brain barrier...
July 20, 2017: Journal of Molecular Graphics & Modelling
https://www.readbyqxmd.com/read/28734699/an-update-on-the-genetics-of-dementia-with-lewy-bodies
#14
REVIEW
Leonie J M Vergouw, Inger van Steenoven, Wilma D J van de Berg, Charlotte E Teunissen, John C van Swieten, Vincenzo Bonifati, Afina W Lemstra, Frank Jan de Jong
The genetic architecture of dementia with Lewy bodies (DLB) is increasingly taking shape. Initially, genetic research focused mainly on linkage and candidate gene studies in small series of DLB patients. More recently, association and exome sequencing studies in larger groups have been conducted, and have shown that several variants in GBA and the APOE ε4 allele are important genetic risk factors for DLB. However, genetic research in DLB is still in its infancy. So far, many genetic studies have been biased and performed in clinically and pathologically heterogeneous populations...
July 13, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28728889/cognitive-and-motor-functioning-in-elderly-glucocerebrosidase-mutation-carriers
#15
Eileen E Moran, Cuiling Wang, Mindy Katz, Laurie Ozelius, Alison Schwartz, Jelena Pavlovic, Roberto A Ortega, Richard B Lipton, Molly E Zimmerman, Rachel Saunders-Pullman
Mutations in the glucocerebrosidase (GBA) gene are a strong genetic risk factor for the development of Parkinson's disease and dementia with Lewy Bodies. However the penetrance of GBA mutations is low for these diseases in heterozygous carriers. The aim of this study was to examine the relationship between mutation status and cognitive and motor functioning in a sample of community-dwelling older adults. Using linear mixed effects models, we examined the effect of heterozygous mutation status on 736 community-dwelling older adults (≥70 years) without dementia or Parkinson's disease assessed over an average of 6 years, 28 of whom had a single GBA mutation (primarily N370S)...
June 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28727984/gba-analysis-in-next-generation-era-pitfalls-challenges-and-possible-solutions
#16
Stefania Zampieri, Silvia Cattarossi, Bruno Bembi, Andrea Dardis
Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are responsible for Gaucher disease and represent the main genetic risk factor for developing Parkinson disease. In past years, next-generation sequencing (NGS) technology has been applied for the molecular analysis of the GBA gene, both as a single gene or as part of gene panels. However, the presence of complex gene-pseudogene rearrangements, resulting from the presence of a highly homologous pseudogene (GBAP1) located downstream of the GBA gene, makes NGS analysis of GBA challenging...
July 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28669474/editorial-commentary-angle-versus-anatomy-sacrificing-graft-bending-angle-for-anatomic-anterior-cruciate-ligament-reconstruction
#17
EDITORIAL
David Pula
Graft bending angle (GBA) is the angle created by the intra-articular anterior cruciate ligament (ACL) graft and the femoral tunnel. By definition then, it is affected by the angle at which the surgeon drills the femoral tunnel. In an attempt to create a more anatomic ACL, different techniques have been described to put the femoral tunnel in the anatomic footprint. If you can get past each author's unique description of GBA, whether they are referring to the graft, the tunnel angle, or using adjectives such as acute or higher GBA, you see that attempting to create more anatomic ACL reconstructions has resulted in a sharper turn for our grafts...
July 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28667566/connecting-gaucher-and-parkinson-disease-considerations-for-clinical-and-research-genetic-counseling-settings
#18
Lola Cook, Jeanine Schulze
There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28649613/early-onset-parkinsonism-in-a-pedigree-with-phosphoglycerate-kinase-deficiency-and-a-heterozygous-carrier-do-pgk-1-mutations-contribute-to-vulnerability-to-parkinsonism
#19
Satoshi Sakaue, Takashi Kasai, Ikuko Mizuta, Masaya Suematsu, Shinya Osone, Yumiko Azuma, Toshihiko Imamura, Takahiko Tokuda, Hitoshi Kanno, Omar M A El-Agnaf, Masafumi Morimoto, Masanori Nakagawa, Hajime Hosoi, Toshiki Mizuno
Phosphoglycerate kinase 1 (PGK-1) is a glycolytic enzyme encoded by PGK-1, which maps to the X chromosome. PGK-1 deficiency causes X-linked recessive hereditary chronic hemolytic anemia, myopathy, and neurological disorders due to insufficient ATP regeneration. Early-onset parkinsonism has occasionally been reported as a neurological complication of this condition. However, heterozygous carriers of PGK-1 deficiency were thought to be neurologically asymptomatic. Here, we report a boy with PGK-1 deficiency and his mother, a carrier of a heterozygous mutation in PGK-1, both of whom presented with early-onset parkinsonism...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28629879/prediction-of-cognition-in-parkinson-s-disease-with-a-clinical-genetic-score-a-longitudinal-analysis-of-nine-cohorts
#20
MULTICENTER STUDY
Ganqiang Liu, Joseph J Locascio, Jean-Christophe Corvol, Brendon Boot, Zhixiang Liao, Kara Page, Daly Franco, Kyle Burke, Iris E Jansen, Ana Trisini-Lipsanopoulos, Sophie Winder-Rhodes, Caroline M Tanner, Anthony E Lang, Shirley Eberly, Alexis Elbaz, Alexis Brice, Graziella Mangone, Bernard Ravina, Ira Shoulson, Florence Cormier-Dequaire, Peter Heutink, Jacobus J van Hilten, Roger A Barker, Caroline H Williams-Gray, Johan Marinus, Clemens R Scherzer
BACKGROUND: Cognitive decline is a debilitating manifestation of disease progression in Parkinson's disease. We aimed to develop a clinical-genetic score to predict global cognitive impairment in patients with the disease. METHODS: In this longitudinal analysis, we built a prediction algorithm for global cognitive impairment (defined as Mini Mental State Examination [MMSE] ≤25) using data from nine cohorts of patients with Parkinson's disease from North America and Europe assessed between 1986 and 2016...
August 2017: Lancet Neurology
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