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PSEN2 (presenilin 2 (Alzheimer disease 4))

Identity

Other namesAD3L
AD4
PS2
STM2
HGNC (Hugo) PSEN2
LocusID (NCBI) 5664
Location 1q42.13
Location_base_pair Starts at 227058273 and ends at 227083804 bp from pter ( according to hg19-Feb_2009)  [Mapping]

DNA/RNA

 
  Presenilin 2 transcript, lines indicate introns and boxes exons. Untranslated regions are represented as yellow boxes and coding regions as red boxes.
Description Twelve exons, spans approximately 26.7 kb of genomic DNA in the centromere to telomere orientation, the translation initation codon is in exon 4 and the stop codon in exon 12.
Transcription mRNA of approximately 2.3 kb. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified.
Pseudogene Not known.

Protein

 
  Presenilin 2 protein domains, bright blue boxes are transmembrane domains (TM).
Description The open reading frame encodes a 448 amino acid protein, with an estimated molecular weight of 50 kDa. It is a multi-spanning transmembrane protein with a predicted 9 transmembrane domains. Heterogeneous proteolytic processing generates N-terminal and C-terminal fragments.
Expression Neuronal (higher levels in hippocampus and cerebellum). Isoform 1 is seen in the placenta, skeletal muscle and heart while isoform 2 is seen in the heart, brain, placenta, liver, skeletal muscle and kidney. (In isoform 2 amino-acids 263-296 are missing).
Localisation Endoplasmic reticulum, plasma membrane, golgi apparatus.
Function Catalytic core of the gamma-secretase complex. This complex catalyses the intramembrane cleavage of single-pass membrane proteins such as Notch and the Amyloid Precursor Protein (APP) to give intracellular signaling. The released intracellular domains of Notch or APP form complexes with other proteins to regulate gene transcription.
Homology The PSEN2 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.

Mutations

Somatic 23 mutations.
Nucleotide changeDiseaseReference
Arg62HisADCruts et al., 1998; Guerreiro et al., 2008
Arg71Trp ADGuerreiro et al., 2008
Thr122ProADFinckh et al., 2000; 2005
Ser130LeuADSorbi et al., 2002; Tedde et al., 2003; Tomaino et al., 2007
Val139MetADBernardi et al., 2008
Asn141IleADLevy-Lahad et al., 1995; Rogaev et al., 1995
Met174Val ADGuerreiro et al., 2008
Ser175CysADPiscopo et al., 2008
Gln228Leu ADZekanowski et al., 2003
Met239Ile ADFinckh et al., 2000
Met239ValADRogaev et al., 1995; Marcon et al., 2004
Val393Met ADLindquist et al., 2008; 2009
Thr430MetADLleo et al., 2002; Ezquerra et al., 2003
Asp439AlaADLleo et al., 2001; 2002
Arg62HisBreast CancerTo et al., 2006
Arg71TrpBreast CancerTo et al., 2006
Tyr231Cys FTDMarcon et al., 2008; 2009
Ala85ValLBDPiscopo et al., 2008
Thr122ArgAtypical DementiaBinetti et al., 2003

Table. Mutations identified through genetic screening. AD: Alzheimer's Disease, FTD: Frontotemporal Dementia, LBD: Lewy Body Dementia.

Implicated in

Entity Breast cancer
Disease Breast cancer is the most common form of cancer for women. The cancer originates from the breast tissue where it can be a ductal carcinoma or lobular carcinoma. They can be further defined as in situ or invasive cancers.
Oncogenesis Mutations (see above).
  
Entity Alzheimer's disease
Note Mutations (see above) taken from the Alzheimer's Disease and Frontotemporal Dementia Mutation Database. Only pathogenic mutations are included.
Disease Alzheimer's disease is the most prevalent form of dementia. In affected individuals the disease causes a progressive and permanent decline in memory and cognitive abilities. Neuropathogenesis is proposed to be a result of the accumulation of amyloid-beta peptides in the brain together with increased oxidative stress and neuroinflammation. The presenilin proteins are central to the gamma-secretase cleavage of the amyloid precursor protein (APP), releasing the amyloid-beta peptide. Point mutations in the presenilin genes lead to cases of familial Alzheimer's disease (and some sporadic cases) by altering APP cleavage resulting in excess amyloid-beta formation.
 
Diagram taken from http://www.molgen.ua.ac.be/ADMutations. Coloured circles indicate mutation sites. Red: pathogenic, orange: pathogenic nature unclear, green: not pathogenic.
  
Entity Frontotemporal Dementia (FTD)
Note Mutation (see above).
Disease Frontotemporal dementia is a group of related conditions resulting from the progressive degeneration of the temporal and frontal lobes of the brain (frontotemporal lobar degeneration, FTLD), usually with the presence of abnormal intracellular protein accumulations. These areas of the brain play a significant role in decision-making, behavioral control, emotion and language. The disorder is often sporadic, familial FTD has been linked to mutations in several genes, including those encoding the microtubule-associated protein tau (MAPT), progranulin (GRN), valosin-containing protein (VCP) and charged multivescicular body protein 2B (CHMP2B).
  
Entity Lewy body Dementia (DLB)
Note Mutation (see above).
Disease Dementia with Lewy bodies is a neurodegenerative disorder associated with abnormal structures (Lewy bodies) which are clumps of alpha-synuclein and ubiquitin protein in neurons found in certain areas of the brain. In addition to dementia, patients with dementia with Lewy bodies experience hallucinations, motor impairment, and fluctuating alertness.
  

To be noted

Truncated variant PSEN2 protein (PS2V). Variant transcript lacks exon 5 due to alternative splicing. Encodes the first 119 codons of PSEN2 plus a newly generated five amino acids SSMAG. PS2V is detected in sporadic Alzheimer's disease, bi-polar and schizophrenia cases (Sato et al., 1999; Smith et al., 2004). Cell-culture experiments indicate that this variant is upregulated under hypoxic conditions (Sato et al., 1999).

External links

Nomenclature
HGNC (Hugo)PSEN2   9509
Cards
AtlasPSEN2ID41883ch1q42
Entrez_Gene (NCBI)PSEN2  5664  presenilin 2
GeneCards (Weizmann)PSEN2
Ensembl (Hinxton)ENSG00000143801 [Gene_View]  chr1:227058273-227083804 [Contig_View]  PSEN2 [Vega]
ICGC DataPortalENSG00000143801
AceView (NCBI)PSEN2
Genatlas (Paris)PSEN2
WikiGenes5664
SOURCE (Princeton)NM_000447 NM_012486
Genomic and cartography
GoldenPath (UCSC)PSEN2  -  1q42.13   chr1:227058273-227083804 +  1q31-q42   [Description]    (hg19-Feb_2009)
EnsemblPSEN2 - 1q31-q42 [CytoView]
Mapping of homologs : NCBIPSEN2 [Mapview]
OMIM600759   606889   613697   
Gene and transcription
Genbank (Entrez)AF416718 AI091221 AK292299 AK301143 BC006365
RefSeq transcript (Entrez)NM_000447 NM_012486
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_007381 NT_167186 NW_001838543 NW_004929294
Consensus coding sequences : CCDS (NCBI)PSEN2
Cluster EST : UnigeneHs.25363 [ NCBI ]
CGAP (NCI)Hs.25363
Alternative Splicing : Fast-db (Paris)GSHG0001497
Alternative Splicing GalleryENSG00000143801
Gene ExpressionPSEN2 [ NCBI-GEO ]     PSEN2 [ SEEK ]   PSEN2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49810 (Uniprot)
NextProtP49810  [Medical]
With graphics : InterProP49810
Splice isoforms : SwissVarP49810 (Swissvar)
Catalytic activity : Enzyme3.4.23.- [ Enzyme-Expasy ]   3.4.23.-3.4.23.- [ IntEnz-EBI ]   3.4.23.- [ BRENDA ]   3.4.23.- [ KEGG ]   
Domains : Interpro (EBI)Pept_A22A_PS2    Peptidase_A22A    Preselin/SPP   
Related proteins : CluSTrP49810
Domain families : Pfam (Sanger)Presenilin (PF01080)   
Domain families : Pfam (NCBI)pfam01080   
Domain families : Smart (EMBL)PSN (SM00730)  
DMDM Disease mutations5664
Blocks (Seattle)P49810
Human Protein AtlasENSG00000143801
Peptide AtlasP49810
HPRD02860
IPIIPI00184584   IPI00218471   IPI00952873   IPI00646420   IPI00981899   IPI00377103   IPI00985117   IPI00980574   IPI00983222   
Protein Interaction databases
DIP (DOE-UCLA)P49810
IntAct (EBI)P49810
FunCoupENSG00000143801
BioGRIDPSEN2
IntegromeDBPSEN2
STRING (EMBL)PSEN2
Ontologies - Pathways
QuickGOP49810
Ontology : AmiGOGolgi membrane  kinetochore  response to hypoxia  cell fate specification  somitogenesis  negative regulation of protein phosphorylation  hematopoietic progenitor cell differentiation  T cell activation involved in immune response  myeloid leukocyte differentiation  endopeptidase activity  aspartic-type endopeptidase activity  protein binding  nuclear inner membrane  mitochondrial inner membrane  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  centrosome  cytosol  plasma membrane  integral component of plasma membrane  cell cortex  membrane protein ectodomain proteolysis  calcium ion transport  regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  Notch receptor processing  Notch receptor processing  memory  cell surface  protein transport  membrane  apical plasma membrane  protein processing  dorsal/ventral neural tube patterning  Z disc  embryonic limb morphogenesis  axon  growth cone  forebrain development  membrane protein intracellular domain proteolysis  negative regulation of protein complex assembly  neuromuscular junction  negative regulation of protein binding  endoplasmic reticulum calcium ion homeostasis  ciliary rootlet  intracellular signal transduction  locomotion  anagen  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  neuronal cell body  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of catalytic activity  dendritic shaft  protein complex  membrane raft  neurotrophin TRK receptor signaling pathway  regulation of synaptic plasticity  lung alveolus development  perinuclear region of cytoplasm  thymus development  brain morphogenesis  beta-amyloid metabolic process  positive regulation of coagulation  T cell receptor signaling pathway  cardiac muscle contraction  apoptotic signaling pathway  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Ontology : EGO-EBIGolgi membrane  kinetochore  response to hypoxia  cell fate specification  somitogenesis  negative regulation of protein phosphorylation  hematopoietic progenitor cell differentiation  T cell activation involved in immune response  myeloid leukocyte differentiation  endopeptidase activity  aspartic-type endopeptidase activity  protein binding  nuclear inner membrane  mitochondrial inner membrane  lysosomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  centrosome  cytosol  plasma membrane  integral component of plasma membrane  cell cortex  membrane protein ectodomain proteolysis  calcium ion transport  regulation of epidermal growth factor-activated receptor activity  Notch signaling pathway  Notch receptor processing  Notch receptor processing  memory  cell surface  protein transport  membrane  apical plasma membrane  protein processing  dorsal/ventral neural tube patterning  Z disc  embryonic limb morphogenesis  axon  growth cone  forebrain development  membrane protein intracellular domain proteolysis  negative regulation of protein complex assembly  neuromuscular junction  negative regulation of protein binding  endoplasmic reticulum calcium ion homeostasis  ciliary rootlet  intracellular signal transduction  locomotion  anagen  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  neuronal cell body  positive regulation of apoptotic process  negative regulation of apoptotic process  positive regulation of catalytic activity  dendritic shaft  protein complex  membrane raft  neurotrophin TRK receptor signaling pathway  regulation of synaptic plasticity  lung alveolus development  perinuclear region of cytoplasm  thymus development  brain morphogenesis  beta-amyloid metabolic process  positive regulation of coagulation  T cell receptor signaling pathway  cardiac muscle contraction  apoptotic signaling pathway  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  positive regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Pathways : BIOCARTAHIV-I Nef: negative effector of Fas and TNF [Genes]   
Pathways : KEGGNotch signaling pathway    Neurotrophin signaling pathway    Alzheimer's disease   
REACTOMEP49810 [protein]
REACTOME PathwaysREACT_691 A third proteolytic cleavage releases NICD [pathway]
REACTOME PathwaysREACT_116125 Disease [pathway]
REACTOME PathwaysREACT_111102 Signal Transduction [pathway]
Protein Interaction DatabasePSEN2
Wikipedia pathwaysPSEN2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PSEN2
SNP (GeneSNP Utah)PSEN2
SNP : HGBasePSEN2
Genetic variants : HAPMAPPSEN2
1000_GenomesPSEN2 
ICGC programENSG00000143801 
CONAN: Copy Number AnalysisPSEN2 
Somatic Mutations in Cancer : COSMICPSEN2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
DECIPHER (Syndromes)1:227058273-227083804
Mutations and Diseases : HGMDPSEN2
OMIM600759    606889    613697   
MedgenPSEN2
GENETestsPSEN2
Disease Genetic AssociationPSEN2
Huge Navigator PSEN2 [HugePedia]  PSEN2 [HugeCancerGEM]
Genomic VariantsPSEN2  PSEN2 [DGVbeta]
Exome VariantPSEN2
dbVarPSEN2
ClinVarPSEN2
snp3D : Map Gene to Disease5664
General knowledge
Homologs : HomoloGenePSEN2
Homology/Alignments : Family Browser (UCSC)PSEN2
Phylogenetic Trees/Animal Genes : TreeFamPSEN2
Chemical/Protein Interactions : CTD5664
Chemical/Pharm GKB GenePA33856
Clinical trialPSEN2
Cancer Resource (Charite)ENSG00000143801
Other databases
Probes
Litterature
PubMed180 Pubmed reference(s) in Entrez
CoreMinePSEN2
GoPubMedPSEN2
iHOPPSEN2

Bibliography

Candidate gene for the chromosome 1 familial Alzheimer's disease locus.
Levy-Lahad E, Wasco W, Poorkaj P, Romano DM, Oshima J, Pettingell WH, Yu CE, Jondro PD, Schmidt SD, Wang K, Crowley AC, Fu YH, Guenette SY, Galas D, Nemens E, Wijsman EM, Bird TD, Schellenberg GD, Tanzi RE.
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PMID 7638622
 
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
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Nature. 1995 Aug 31;376(6543):775-8.
PMID 7651536
 
Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues.
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J Neurosci. 1996 Dec 1;16(23):7513-25.
PMID 8922407
 
Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.
Levy-Lahad E, Poorkaj P, Wang K, Fu YH, Oshima J, Mulligan J, Schellenberg GD.
Genomics. 1996 Jun 1;34(2):198-204.
PMID 8661049
 
Neuronal expression of STM2 mRNA in human brain is reduced in Alzheimer's disease.
McMillan PJ, Leverenz JB, Poorkaj P, Schellenberg GD, Dorsa DM.
J Histochem Cytochem. 1996 Nov;44(11):1215-22.
PMID 8918895
 
Structure and alternative splicing of the presenilin-2 gene.
Prihar G, Fuldner RA, Perez-Tur J, Lincoln S, Duff K, Crook R, Hardy J, Philips CA, Venter C, Talbot C, Clark RF, Goate A, Li J, Potter H, Karran E, Roberts GW, Hutton M, Adams MD.
Neuroreport. 1996 Jul 8;7(10):1680-4.
PMID 8904781
 
Participation of presenilin 2 in apoptosis: enhanced basal activity conferred by an Alzheimer mutation.
Wolozin B, Iwasaki K, Vito P, Ganjei JK, Lacana E, Sunderland T, Zhao B, Kusiak JW, Wasco W, D'Adamio L.
Science. 1996 Dec 6;274(5293):1710-3.
PMID 8939861
 
Presenilin mutations in Alzheimer's disease.
Cruts M, Van Broeckhoven C.
Hum Mutat. 1998;11(3):183-90.
PMID 9521418
 
Molecular genetics of Alzheimer's disease.
Cruts M, Van Broeckhoven C.
Ann Med. 1998 Dec;30(6):560-5.
PMID 9920359
 
Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.
Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C.
Hum Mol Genet. 1998 Jan;7(1):43-51.
PMID 9384602
 
A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.
Lao JI, Beyer K, Fernandez-Novoa L, Cacabelos R.
Neurogenetics. 1998 Aug;1(4):293-6.
PMID 10732806
 
A novel presenilin-2 splice variant in human Alzheimer's disease brain tissue.
Sato N, Hori O, Yamaguchi A, Lambert JC, Chartier-Harlin MC, Robinson PA, Delacourte A, Schmidt AM, Furuyama T, Imaizumi K, Tohyama M, Takagi T.
J Neurochem. 1999 Jun;72(6):2498-505.
PMID 10349860
 
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.
Am J Hum Genet. 2000 Jan;66(1):110-7.
PMID 10631141
 
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I.
Finckh U, Alberici A, Antoniazzi M, Benussi L, Fedi V, Giannini C, Gal A, Nitsch RM, Binetti G.
Neurology. 2000 May 23;54(10):2006-8.
PMID 10822446
 
A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.
Lleo A, Blesa R, Gendre J, Castellvi M, Pastor P, Queralt R, Oliva R.
Neurology. 2001 Nov 27;57(10):1926-8.
PMID 11723295
 
Identification of a second presenilin gene in zebrafish with similarity to the human Alzheimer's disease gene presenilin2.
Groth C, Nornes S, McCarty R, Tamme R, Lardelli M.
Dev Genes Evol. 2002 Nov;212(10):486-90. Epub 2002 Sep 17.
PMID 12424519
 
Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.
Lleo A, Blesa R, Queralt R, Ezquerra M, Molinuevo JL, Pena-Casanova J, Rojo A, Oliva R.
Arch Neurol. 2002 Nov;59(11):1759-63.
PMID 12433263
 
Novel presenilin 1 and presenilin 2 mutations in early-onset Alzheimer's disease families.
Sorbi S, Tedde A, Nacmias B, Ciantelli M, Caffarra P, Ghidoni E, Bracco L, Piccini C.
Neurobiology of Aging. 2002; 23(1S):S312.
 
Atypical dementia associated with a novel presenilin-2 mutation.
Binetti G, Signorini S, Squitti R, Alberici A, Benussi L, Cassetta E, Frisoni GB, Barbiero L, Feudatari E, Nicosia F, Testa C, Zanetti O, Gennarelli M, Perani D, Anchisi D, Ghidoni R, Rossini PM.
Ann Neurol. 2003 Dec;54(6):832-6.
PMID 14681895
 
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
Ezquerra M, Lleo A, Castellvi M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R.
Arch Neurol. 2003 Aug;60(8):1149-51.
PMID 12925374
 
Developmental control of Presenilin1 expression, endoproteolysis, and interaction in zebrafish embryos.
Nornes S, Groth C, Camp E, Ey P, Lardelli M.
Exp Cell Res. 2003 Sep 10;289(1):124-32.
PMID 12941610
 
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.
Tedde A, Nacmias B, Ciantelli M, Forleo P, Cellini E, Bagnoli S, Piccini C, Caffarra P, Ghidoni E, Paganini M, Bracco L, Sorbi S.
Arch Neurol. 2003 Nov;60(11):1541-4.
PMID 14623725
 
Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
Zekanowski C, Styczyn'ska M, Pepnon'ska B, Gabryelewicz T, Religa D, Ilkowski J, Kijanowska-Haladyna B, Kotapka-Minc S, Mikkelsen S, Pfeffer A, Barczak A, Luczywek E, Wasiak B, Chodakowska-Zebrowska M, Gustaw K, Laczkowski J, Sobow T, Kuznicki J, Barcikowska M.
Exp Neurol. 2003 Dec;184(2):991-6.
PMID 14769392
 
Neuropathological and clinical phenotype of an Italian Alzheimer family with M239V mutation of presenilin 2 gene.
Marcon G, Giaccone G, Cupidi C, Balestrieri M, Beltrami CA, Finato N, Bergonzi P, Sorbi S, Bugiani O, Tagliavini F.
J Neuropathol Exp Neurol. 2004 Mar;63(3):199-209.
PMID 15055444
 
Expression of truncated presenilin 2 splice variant in Alzheimer's disease, bipolar disorder, and schizophrenia brain cortex.
Smith MJ, Sharples RA, Evin G, McLean CA, Dean B, Pavey G, Fantino E, Cotton RG, Imaizumi K, Masters CL, Cappai R, Culvenor JG.
Brain Res Mol Brain Res. 2004 Aug 23;127(1-2):128-35.
PMID 15306129
 
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A.
Neurogenetics. 2005 May;6(2):85-9. Epub 2005 Mar 18.
PMID 15776278
 
Functional characterization of novel presenilin-2 variants identified in human breast cancers.
To MD, Gokgoz N, Doyle TG, Donoviel DB, Knight JA, Hyslop PS, Bernstein A, Andrulis IL.
Oncogene. 2006 Jun 15;25(25):3557-64. Epub 2006 Feb 13.
PMID 16474849
 
Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease.
Tomaino C, Bernardi L, Anfossi M, Costanzo A, Ferrise F, Gallo M, Geracitano S, Maletta R, Curcio SA, Mirabelli M, Colao R, Frangipane F, Puccio G, Calignano C, Muraca MG, Paonessa A, Smirne N, Leotta A, Bruni AC.
J Neurol. 2007 Mar;254(3):391-3. Epub 2007 Mar 7.
PMID 17345043
 
Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.
Bernardi L, Tomaino C, Anfossi M, Gallo M, Geracitano S, Puccio G, Colao R, Frangipane F, Mirabelli M, Smirne N, Giovanni Maletta R, Bruni AC.
J Neurol. 2008 Apr;255(4):604-6. Epub 2008 Mar 25.
PMID 18350357
 
Molecular genetics of Alzheimer's disease: an update.
Brouwers N, Sleegers K, Van Broeckhoven C.
Ann Med. 2008;40(8):562-83. (REVIEW)
PMID 18608129
 
A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.
Lindquist SG, Hasholt L, Bahl JM, Heegaard NH, Andersen BB, Norremolle A, Stokholm J, Schwartz M, Batbayli M, Laursen H, Pardossi-Piquard R, Chen F, St George-Hyslop P, Waldemar G, Nielsen JE.
Eur J Neurol. 2008 Oct;15(10):1135-9. Epub 2008 Aug 22.
PMID 18727676
 
Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.
Nornes S, Newman M, Verdile G, Wells S, Stoick-Cooper CL, Tucker B, Frederich-Sleptsova I, Martins R, Lardelli M.
Hum Mol Genet. 2008 Feb 1;17(3):402-12. Epub 2007 Nov 2.
PMID 17981814
 
A novel PSEN2 mutation associated with a peculiar phenotype.
Piscopo P, Marcon G, Piras MR, Crestini A, Campeggi LM, Deiana E, Cherchi R, Tanda F, Deplano A, Vanacore N, Tagliavini F, Pocchiari M, Giaccone G, Confaloni A.
Neurology. 2008 Apr 22;70(17):1549-54.
PMID 18427071
 
Genetic testing in familial AD and FTD: mutation and phenotype spectrum in a Danish cohort.
Lindquist SG, Schwartz M, Batbayli M, Waldemar G, Nielsen JE.
Clin Genet. 2009 Aug;76(2):205-9. Epub 2009 Jul 29.
PMID 19659892
 
A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.
Marcon G, Di Fede G, Giaccone G, Rossi G, Giovagnoli AR, Maccagnano E, Tagliavini F.
J Alzheimers Dis. 2009 Mar;16(3):509-11.
PMID 19276543
 
Independent and cooperative action of Psen2 with Psen1 in zebrafish embryos.
Nornes S, Newman M, Wells S, Verdile G, Martins RN, Lardelli M.
Exp Cell Res. 2009 Oct 1;315(16):2791-801. Epub 2009 Jun 27.
PMID 19563801
 
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ, Baquero M, Blesa R, Boada M, Bras JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gomez-Isla T, Hernandez I, Lleo A, Machado A, Martinez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Perez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sanchez-Valle R, Santana I, Tarraga L, Valdivieso F, Singleton A, Hardy J, Clarimon J.
Neurobiol Aging. 2010 May;31(5):725-731. Epub 2008 Jul 30.
PMID 18667258
 
REVIEW articlesautomatic search in PubMed
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Contributor(s)

Written04-2010Morgan Newman
School of Molecular and Biomedical Science, The University of Adelaide, Australia

Citation

This paper should be referenced as such :
Newman, M
PSEN2 (presenilin 2 (Alzheimer disease 4))
Atlas Genet Cytogenet Oncol Haematol. 2011;15(1):-.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/PSEN2ID41883ch1q42.html

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