Human Mutation

Meliha Karsak* | Konstantin Glebov* | Marina Scheffold | Thomas Bajaj | Amit Kawalia | Ilker Karaca | Sebastian Rading | Johannes Kornhuber | Oliver Peters | Monica Diez‐Fairen | Lutz Frölich | Michael Hüll | Jens Wiltfang | Martin Scherer | Steffi Riedel‐Heller | Anja Schneider | Michael T. Heneka | Klaus Fliessbach | Ahmed Sharaf | Holger Thiele | Martina Lennarz | Frank Jessen | Wolfgang Maier | Christian Kubisch | Zoya Ignatova | Peter Nürnberg | Pau Pastor | Jochen Walter | Alfredo Ramirez

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[11]  S. Marie,et al.  Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants , 2012, Human mutation.

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[31]  W. Pijnappel,et al.  Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity , 2019, Human mutation.

[32]  D. Halley,et al.  Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating , 2008, Human mutation.

[33]  R. Redon,et al.  Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls , 2017, Neurobiology of Aging.

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[41]  S. Brooks,et al.  A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). , 1994, Human molecular genetics.

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[45]  S. Kang,et al.  Disease‐Associated Mutations of TREM2 Alter the Processing of N‐Linked Oligosaccharides in the Golgi Apparatus , 2015, Traffic.

[46]  F. Glocker,et al.  Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial , 2009, Journal of Neurology.

[47]  M. Araúzo-Bravo,et al.  GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells , 2017, Molecular therapy. Nucleic acids.

[48]  W. Pijnappel,et al.  Antisense Oligonucleotides Promote Exon Inclusion and Correct the Common c.-32-13T>G GAA Splicing Variant in Pompe Disease , 2017, Molecular therapy. Nucleic acids.

[49]  C. Haass,et al.  An Alzheimer‐associated TREM2 variant occurs at the ADAM cleavage site and affects shedding and phagocytic function , 2017, EMBO molecular medicine.

[50]  D. Halley,et al.  Identification and Characterization of Aberrant GAA Pre‐mRNA Splicing in Pompe Disease Using a Generic Approach , 2015, Human mutation.

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[52]  J. Walter.  The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases* , 2015, The Journal of Biological Chemistry.

[53]  L. Hoefsloot,et al.  Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays , 2019, European Journal of Human Genetics.

[54]  T. Frebourg,et al.  Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools , 2016, PLoS genetics.

[55]  C. Cruchaga,et al.  TREM2 is associated with the risk of Alzheimer's disease in Spanish population , 2013, Neurobiology of Aging.

[56]  F. Glocker,et al.  36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy , 2012, Journal of Inherited Metabolic Disease.

[57]  David V. Hansen,et al.  TREM2, Microglia, and Neurodegenerative Diseases. , 2017, Trends in molecular medicine.

[58]  K. Coggeshall,et al.  TREM 2-and DAP 12-Dependent Activation of PI 3 K Requires DAP 10 and Is Inhibited by SHIP 1 , 2010 .

[59]  Tin Wee Tan,et al.  SPdb – a signal peptide database , 2005, BMC Bioinformatics.

[60]  Kevin W Eliceiri,et al.  NIH Image to ImageJ: 25 years of image analysis , 2012, Nature Methods.

[61]  J. Molinuevo,et al.  TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis , 2014, Science Translational Medicine.

[62]  J. ByrneBarry,et al.  Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease , 2017 .

[63]  L. Peltonen,et al.  DAP12/TREM2 Deficiency Results in Impaired Osteoclast Differentiation and Osteoporotic Features , 2003, The Journal of experimental medicine.

[64]  F. Jessen,et al.  A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2 , 2019, Human mutation.

[65]  M. Willart,et al.  Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype. , 2010, Blood.

[66]  P. Tompa,et al.  Introducing protein intrinsic disorder. , 2014, Chemical reviews.

[67]  A. Broomfield,et al.  Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy , 2016, Journal of Inherited Metabolic Disease.

[68]  D. Rizopoulos,et al.  Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up , 2015, Journal of Inherited Metabolic Disease.

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[70]  A. Rosenberg,et al.  Elimination of antibodies to recombinant enzyme in Pompe's disease. , 2009, The New England journal of medicine.

[71]  H. Neumann,et al.  Sequential Proteolytic Processing of the Triggering Receptor Expressed on Myeloid Cells-2 (TREM2) Protein by Ectodomain Shedding and γ-Secretase-dependent Intramembranous Cleavage* , 2013, The Journal of Biological Chemistry.

[72]  M. Moracci,et al.  Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease , 2017, Nature Communications.

[73]  J. Walter,et al.  Functional involvement of γ-secretase in signaling of the triggering receptor expressed on myeloid cells-2 (TREM2) , 2016, Journal of Neuroinflammation.

[74]  Tianning Liui,et al.  The role of TREM 2 R 47 H as a risk factor for Alzheimer ’ s disease , frontotemporal lobar degeneration , amyotrophic lateral sclerosis , and Parkinson ’ s disease , 2015 .

[75]  J. Hardy,et al.  Microglial genes regulating neuroinflammation in the progression of Alzheimer's disease , 2016, Current Opinion in Neurobiology.

[76]  B. Bembi,et al.  Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents , 2013, Nucleic acids research.

[77]  C. Boerkoel,et al.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. , 1995, American journal of human genetics.

[78]  Benjamin J. Raphael,et al.  Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes , 2011, Proceedings of the National Academy of Sciences.

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[82]  D. Orlikowski,et al.  Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. , 2016, Molecular genetics and metabolism.

[83]  A. Reuser,et al.  Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates , 2009, Journal of Inherited Metabolic Disease.

[84]  D. Dimmock,et al.  Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease , 2012, Genetics in Medicine.

[85]  M. Colonna,et al.  TREM2 sustains microglial expansion during aging and response to demyelination. , 2015, The Journal of clinical investigation.

[86]  Nick C Fox,et al.  Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease , 2017, Nature Genetics.

[87]  P. Nürnberg,et al.  Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia , 2018, Cold Spring Harbor molecular case studies.

[88]  J. Jaeken,et al.  Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study , 2010, Neuromuscular Disorders.

[89]  R. Guerreiro,et al.  A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family , 2013, Neurobiology of Aging.

[90]  D. Rujescu,et al.  The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease , 2015, Alzheimer's & Dementia.

[91]  H. Mandel,et al.  Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. , 2010, Molecular genetics and metabolism.