VPS35 Mutations in Parkinson Disease

Slides:

Advertisements

Similar presentations

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Advertisements

The protective effect of LRRK2 p

A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea Fernando L. Mendez, Joseph C.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly Julie Jerber, Maha S. Zaki, Jumana.

Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human.

Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure Chun-rong Qin, Shi-ling Chen, Ji-long Yao,

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal- Recessive Nonsyndromic Hearing Impairment Margit Schraders, Kwanghyuk Lee, Jaap.

Volume 141, Issue 6, Pages (December 2011)

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A Krista Mahoney, Susan J. Moore, David Buckley, Muhammed Alam, Patrick Parfrey,

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract Anne E. Hughes, Declan T. Bradley, Malcolm Campbell, Judith Lechner,

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations Jennifer.

Eija Siintola, Meral Topcu, Nina Aula, Hannes Lohi, Berge A

Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy Martine Tétreault, Karine.

High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes Ulrich Finckh, Tomas.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly Julie Jerber, Maha S. Zaki, Jumana.

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy Miyabi Tanaka, Richard W. Olsen, Marco.

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus F.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin.

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 Peter Green, Matthew Wiseman, Yanick J. Crow,

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

Volume 44, Issue 4, Pages (November 2004)

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy Zhenlin Zhang, Weibo Xia, Jinwei He, Zeng Zhang, Yaohua.

Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi,

(A) Six missense mutations in six essential genes that are not in annotated functional domains. (A) Six missense mutations in six essential genes that.

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy Alison G. Compton,

Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations Jennifer.

Alice E. Davidson, Ian D. Millar, Jill E

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease Alexander Zimprich, Anna Benet-Pagès, Walter Struhal,

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly Yuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai,

Volume 64, Issue 5, Pages (November 2003)

James A. Poulter, Manir Ali, David F

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4 Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent, Tatiana.

Identification of novel F-box proteins in Xenopus laevis

Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M

Canny Sugiana, David J. Pagliarini, Matthew McKenzie, Denise M

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase Lina Basel-Vanagaite,

Volume 139, Issue 3, Pages e3 (September 2010)

Co-Inheritance of Mutations in the Uroporphyrinogen Decarboxylase and Hemochromatosis Genes Accelerates the Onset of Porphyria Cutanea Tarda Jennifer.

Figure 2 DNA sequence analysis of VPS37A

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility Qing Sang, Bin Li, Yanping Kuang, Xueqian Wang, Zhihua Zhang, Biaobang.

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa Abdul Noor, Christian Windpassinger,

Mutations in ZDHHC9, Which Encodes a Palmitoyltransferase of NRAS and HRAS, Cause X-Linked Mental Retardation Associated with a Marfanoid Habitus F.

Monia B. Hammer, Ghada Eleuch-Fayache, Lucia V

R119 is highly conserved, and the p

L. Aravind, Eugene V. Koonin Current Biology

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 Catarina M. Quinzii, Tuan H. Vu, K.

The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval Alexander Zimprich,

Volume 130, Issue 1, Pages (January 2006)

Satoshi Suzuki, Mary L. Marazita, Margaret E

Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q Carmel Toomes, Helen M. Bottomley, Richard.

Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

Atteeq U. Rehman, Regie Lyn P. Santos-Cortez, Robert J

Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) Yelena Bykhovskaya, Kari Casas, Emebet.

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral.

Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas Qilin Zhang, Cheng Peng,

Ingrid K. Kotowski, Alexander Pertsemlidis, Amy Luke, Richard S

Conversion and Compensatory Evolution of the γ-Crystallin Genes and Identification of a Cataractogenic Mutation That Reverses the Sequence of the Human.

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway Rocio Acuna-Hidalgo, Denny.

Alexandre Irrthum, Marika J

Volume 24, Issue 1, Pages (January 2016)

Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma Dewi Astuti,

A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl- tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth.

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3) Annie P. Chiang, Darryl Nishimura,

Angioid Streaks in Pseudoxanthoma Elasticum: Role of the p

Presentation transcript:

VPS35 Mutations in Parkinson Disease Carles Vilariño-Güell, Christian Wider, Owen A. Ross, Justus C. Dachsel, Jennifer M. Kachergus, Sarah J. Lincoln, Alexandra I. Soto- Ortolaza, Stephanie A. Cobb, Greggory J. Wilhoite, Justin A. Bacon, Bahareh Behrouz, Heather L. Melrose, Emna Hentati, Andreas Puschmann, Daniel M. Evans, Elizabeth Conibear, Wyeth W. Wasserman, Jan O. Aasly, Pierre R. Burkhard, Ruth Djaldetti, Joseph Ghika, Faycal Hentati, Anna Krygowska-Wajs, Tim Lynch, Eldad Melamed, Alex Rajput, Ali H. Rajput, Alessandra Solida, Ruey-Meei Wu, Ryan J. Uitti, Zbigniew K. Wszolek, François Vingerhoets, Matthew J. Farrer The American Journal of Human Genetics Volume 89, Issue 1, Pages 162-167 (July 2011) DOI: 10.1016/j.ajhg.2011.06.001 Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigrees with VPS35 Mutations Individual pedigrees are labeled and numbered according to their geographic origin (CH, Switzerland; US, United States; TN, Tunisia; YE, Yemenite Jews from Israel). An asterisk indicates an inferred mutation carrier. Filled symbols indicate affected individuals, and the corresponding age at disease onset is indicated; na, not available. Heterozygote mutation carriers (M) and wild-type (wt) genotypes are indicated. (A) Original family used for exome sequencing and identification of VPS35 p.Asp620Asn. (B) Additional kindreds presenting VPS35 p.Asp620Asn mutations. (C) Pedigree presenting the p.Pro316Ser variant. The American Journal of Human Genetics 2011 89, 162-167DOI: (10.1016/j.ajhg.2011.06.001) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

Figure 2 VPS35 Mutations and Cross-species Conservation Protein orthologs were aligned via ClustalW. Amino acid positions for VPS35 p.Pro316Ser and p.Asp620Asn are highlighted in black. Protein orthologs with amino acid positions differing from those of the human sequence are indicated in gray. RefSeq accession numbers: Homo sapiens, NP_060676.2; Pan troglodytes, XP_001161439.1; Mus musculus, NP_075373.1; Rattus norvegicus, XP_214646.3; Bos taurus, NP_001039723.1; Canis familiaris, XP_532570.2; Gallus gallus, NP_001005842.1; Xenopus laevis, NP_001089981.1; Danio rerio, NP_001020688.2; Drosophila melanogaster, NP_726175.3; and Saccharomyces cerevisiae, NP_012381.1. An asterisk indicates that five aminoacids have been excluded from Drosophila melanogaster and Saccharomyces cerevisiae at this position. The American Journal of Human Genetics 2011 89, 162-167DOI: (10.1016/j.ajhg.2011.06.001) Copyright © 2011 The American Society of Human Genetics Terms and Conditions