4.4 Article

Rare PSAP Variants and Possible Interaction with GBA in REM Sleep Behavior Disorder

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Analysis of HeterozygousPRKNVariants and Copy-Number Variations in Parkinson's Disease

Eric Yu et al.

Summary: The study found no association between heterozygous single-nucleotide variants and CNVs in PRKN and the risk of PD. Pathogenic and likely-pathogenic variants were less common among PD patients than controls, with no associations found with age at onset.

MOVEMENT DISORDERS (2021)

Article Clinical Neurology

Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder

Kheireddin Mufti et al.

Summary: The study found no significant role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD. There was no association between rare heterozygous variants in the tested genes and the risk of iRBD. Homozygous and compound heterozygous carriers were not overrepresented in iRBD patients compared to controls.

MOVEMENT DISORDERS (2021)

Letter Clinical Neurology

Association analysis of PSAP variants in Parkinson's disease patients

Yin Xia Chao et al.

BRAIN (2021)

Article Neurosciences

Genetic Analysis of Prosaposin, the Lysosomal Storage Disorder Gene in Parkinson's Disease

Yong-Ping Chen et al.

Summary: Recent genetic studies have identified rare and likely pathogenic variants in the PSAP gene, particularly in the SapC domain, showing a role in idiopathic Parkinson's disease in the Chinese population. An intronic variant potentially linked to reduced risk for PD was also found. Patients carrying these pathogenic variants typically exhibit typical PD motor symptoms, respond well to levodopa treatment, and show slow disease progression without cognitive impairment.

MOLECULAR NEUROBIOLOGY (2021)

Article Clinical Neurology

GBA variants in REM sleep behavior disorder A multicenter study

Lynne Krohn et al.

NEUROLOGY (2020)

Review Biochemistry & Molecular Biology

Pro-cathepsin D, Prosaposin, and Progranulin: Lysosomal Networks in Parkinsonism

Nahid Tayebi et al.

TRENDS IN MOLECULAR MEDICINE (2020)

Article Genetics & Heredity

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

Uladzislau Rudakou et al.

NEUROLOGY-GENETICS (2020)

Article Genetics & Heredity

Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease

Jennifer A. Ruskey et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)

Article Biotechnology & Applied Microbiology

A genetic association test through combining two independent tests

Zhongxue Chen et al.

GENOMICS (2019)

Article Geriatrics & Gerontology

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

Bouchra Ouled Amar Bencheikh et al.

NEUROBIOLOGY OF AGING (2018)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Review Clinical Neurology

MDS research criteria for prodromal Parkinson's disease

Daniela Berg et al.

MOVEMENT DISORDERS (2015)

Article Clinical Neurology

Differential effects of severe vs mild GBA mutations on Parkinson disease

Ziv Gan-Or et al.

NEUROLOGY (2015)

Article Biochemistry & Molecular Biology

Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition

Thai Leong Yap et al.

BIOCHEMISTRY (2013)

Article Clinical Neurology

Classification of Sleep Disorders

Michael J. Thorpy

NEUROTHERAPEUTICS (2012)

Article Genetics & Heredity

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

Michael C. Wu et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Biochemistry & Molecular Biology

Solution structure of human saposin c: pH-dependent interaction with phospholipid vesicles

E de Alba et al.

BIOCHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Saposin C is required for normal resistance of acid β-glucosidase to proteolytic degradation

Y Sun et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Multidisciplinary Sciences

Crystal structure of saposin B reveals a dimeric shell for lipid binding

VE Ahn et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)

Article Biochemistry & Molecular Biology

The Protein Data Bank

HM Berman et al.

NUCLEIC ACIDS RESEARCH (2000)