transcript 15 gene which codes for a protein called the huntingtin protein . ref name pmid8458085 ... used. The mass of huntingtin protein is dependent largely on the number of glutamine residues it has, the predicted mass is around 350 Atomic mass unit kDa . Normal huntingtin is generally ... an important role in nerve cell s. Within cells, huntingtin may be involved in signaling, transporting ... apoptosis . The huntingtin protein is required for normal development before birth . ref name pmid7774020 ... 3,113,411 to base pair 3,282,655. Protein Function The function of huntingtin is unclear. It is essential for development, and absence of huntingtin is lethal in mice. ref name pmid7774020 The protein ... huntingtin function an alternative approach to Huntington s disease journal Nature Reviews. Neuroscience ... url ref Huntingtin upregulates the expression of Brain Derived Neurotrophic Factor brain derived neurotrophic factor BDNF at the transcription level but the mechanism by which huntingtin regulates gene ... T, Sipione S, Cattaneo E title Loss of huntingtin mediated BDNF gene transcription in Huntington ... fractionation studies of the molecule, it has been found that huntingtin is primarily associated with vesicle ..., Kahlem P, Djian P title Perinuclear localization of huntingtin as a consequence of its binding to microtubules ... author Hoffner G, Kahlem P, Djian P title Perinuclear localization of huntingtin as a consequence of its ... R, Reeves SA title Huntingtin is a cytoplasmic protein associated with vesicles in human and rat ... C, Sathasivam K, Bates GP, Lehrach H, Wanker EE title The huntingtin interacting protein HIP1 is a clathrin ... hmg 10.17.1807 url ref Interactions Huntingtin has been found to interact directly with at least 19 ... journal author Harjes P, Wanker EE title The hunt for huntingtin function interaction partners tell ... have been found such as huntingtin associated protein 1 HAP1 and Hip 1 huntingtin Interacting ... A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington s disease ... more details
Orphan date April 2012 protein Name huntingtin associated protein 1 neuroan 1 caption image width HGNCid 4812 Symbol HAP1 AltSymbols HAP2 EntrezGene 9001 OMIM 600947 RefSeq NM 003949 UniProt P54257 PDB ECnumber Chromosome 17 Arm q Band 21.2 21.3 LocusSupplementaryData Huntingtin associated protein 1 HAP1 is a protein which in humans is encoded by the HAP1 gene . ref name pmid7477378 cite journal author Li XJ, Li SH, Sharp AH, Nucifora FC, Schilling G, Lanahan A, Worley P, Snyder SH, Ross CA title A huntingtin associated protein enriched in brain with implications for pathology journal Nature volume 378 issue 6555 pages 398 402 year 1995 month November pmid 7477378 doi 10.1038 378398a0 url issn ... RJ, Li XJ title A human HAP1 homologue. Cloning, expression, and interaction with huntingtin journal ... url issn ref This protein was found to bind to the mutant huntingtin protein mHtt in proportion ... of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins dynactin and PCM1 pericentriolar autoantigen ... in vesicular trafficking or organelle transport. ref name entrez cite web title Entrez Gene HAP1 huntingtin ... 9001 accessdate ref Variants Huntingtin associated protein 1 has two subtypes HAP1A and HAP1B. ref name pmid15359012 cite journal author Li SH, Li XJ title Huntingtin and its role in neuronal ... G, Won L, Chase K, Bhide PG, Heller A, Aronin N, Difiglia M title Analysis of Huntingtin associated ... Dunnett SB title The expression of Huntingtin associated protein HAP1 mRNA in developing, adult and ageing ..., Li XJ, Hersch SM title The cellular and subcellular localization of huntingtin associated protein 1 HAP1 comparison with huntingtin in rat and human journal J. Neurosci. volume 18 issue 19 pages 7674 ... Li XJ, Sharp AH, Li SH, Dawson TM, Snyder SH, Ross CA title Huntingtin associated protein HAP1 discrete ... , and HGS gene HGS . References reflist NLM content DEFAULTSORT Huntingtin Associated Protein 1 Category ... more details
Expert subject Medicine date November 2008 protein Name huntingtin interacting protein 1 caption image width HGNCid 4913 Symbol HIP1 AltSymbols EntrezGene 3092 OMIM 601767 RefSeq NM 005338 UniProt O00291 PDB ECnumber Chromosome 7 Arm q Band 11.23 LocusSupplementaryData Huntingtin Interacting Protein or Hip 1 for short is a protein that interacts with the huntingtin protein. It is known to contain a protein domain domain homologous to the death effector domain s DED found on proteins involved in apoptosis . It is believed that accumulation of high levels of the free form of this protein free as in dissociated from the huntingtin and free to bind other key protein s in the cell is one of the mechanisms by which neuron cell death is caused in Huntington s Disease via the caspase 3 route . The role of Hip 1 in caspase mediated cell death remains unclear. Huntingtin interacting protein 1 HIP1 was first identified by Wanker et al. in 1997. ref Wanker, E. E., C. Rovira, et al. 1997 . HIP I a huntingtin interacting protein isolated by the yeast two hybrid system. Hum Mol Genet 6 487 495. ref HIP1 was found to bind to Htt in an N terminal dependent manner, and co localise with Htt in the CNS although the nature of this interaction with respect to muHtt was not identified. It has since been found that the CAG expansion seen with muHtt results in decreased binding affinity for HIP1, thus causing disruption of HIP1 s usual function, and also an increased in free HIP1. ref Hackam, A. S., A. S. Yassa, et al. 2000 . Huntingtin interacting protein 1 induces apoptosis via a novel caspase dependent ... 8 by the Huntingtin interacting protein HIP 1 and a novel partner Hippi. Nat. Cell. Biol. 4 ... light chains. ref Legendre Guillemin, V., M. Metzler, et al. 2003 . HIP1 huntingtin interacting ... cancers. ref Rao, D. S., T. S. Hyun, et al. 2002 . Huntingtin interacting protein 1 is overexpressed ... al. 2005 . Huntingtin interacting protein 1 modulates the transcriptional activity of nuclear hormone ... more details
wiktionary hip The hip is an anatomical region and a joint. It may also refer to Hip bone , in adults one of the bones of the pelvis Hip slang , a slang term meaning fashionably current Rose hip , the fruit of the rose Hip roof , a component of a roof The Tragically Hip , a Canadian rock band Hip album Hip album , by the Danish band Steppeulvene Mil Mi 8 Hip , a Russian helicopter Hip Records , a record label Hexagonal prism HIP used as an abbreviation may refer to Hypertension in Pregnancy , a medical journal Health Insurance Plan of New York, a Health Maintenance Organization Health Insurance Plan of New Jersey , a defunct Health Maintenance Organization Healthy Indiana Plan , a health plan in Indiana that was established by Governor Mitch Daniels Highams Park railway station , England National Rail station code HIP A prefix for a star in the Hipparcos Catalogue Huntingtin Interacting Protein HIP1 &mdash Huntingtin interacting protein 1 HIP2 &mdash Huntingtin interacting protein 2 Historically informed performance , a practice of performing European classical music on period instruments Home Intelligence Platform, a home automation term Home Information Pack , a set of documents about a United Kingdom residential property Human interaction proof, a CAPTCHA Home Improvement Programme in Singapore Human Instrumentality Project from the anime Neon Genesis Evangelion Host Identity Protocol , a computer protocol Hot isostatic pressing , a heat and pressure treatment applied to metals and alloys HIP architecture , a hypothetic computer architecture Helsinki Institute of Physics , a physics institute in Finland HIPS used as an abbreviation may refer to HIPS computing , a host based intrusion prevention system to detect attacks on the system it is installed on High impact polystyrene see Polystyrene Copolymers Helping Individual Prostitutes Survive , a social services organization in Washington, DC See also Hip Hip Hurray Shake Your Hips disambiguation de HIP es Hip fr HI ... more details
Michael R year 2002 month Nov. title HIP14, a novel ankyrin domain containing protein, links huntingtin ... M, et al. title HIP14, a novel ankyrin domain containing protein, links huntingtin to intracellular ... pmc 528928 cite journal author Ducker CE, Stettler EM, French KJ, et al. title Huntingtin interacting ... Huang K, Yanai A, Kang R, et al. title Huntingtin interacting protein HIP14 is a palmitoyl transferase ... more details
HTT may refer to Homotopy type theory , in mathematical logic and computer science Hybrid turbocharger , an electric turbocharger that eliminates turbo lag and reduces vehicle emissions Human Terrain Team , a program of the US military, or a team in this program Huntingtin , a gene HTT or protein Htt , which are causal to Huntington s Disease Hyper Threading Technology , Intel s trademark for their implementation of the simultaneous multithreading technology on the Pentium 4 and later microarchitecture HyperTransport Technology, a bidirectional serial parallel high bandwidth, low latency point to point link used by AMD Ho kago Tea Time , a musical band in a manga K On , as well as anime and game based thereon disambig de HTT ja HTT th HTT ... more details
In molecular biology, HTT antisense RNA 1 non protein coding , also known as HTT AS1 , is a long non coding RNA . It is an antisense RNA which regulates the Expression genetics expression of the Huntingtin HTT gene. ref name pmid21672921 cite journal author Chung DW, Rudnicki DD, Yu L, Margolis RL title A natural antisense transcript at the Huntington s disease repeat locus regulates HTT expression. journal Hum Mol Genet year 2011 volume 20 issue 17 pages 3467 77 pmid 21672921 doi 10.1093 hmg ddr263 pmc 3153309 url http www.ncbi.nlm.nih.gov entrez eutils elink.fcgi?dbfrom pubmed&tool sumsearch.org cite&retmode ref&cmd prlinks&id 21672921 ref See also Long noncoding RNA References reflist Category Non coding RNA ... more details
ref Reducing huntingtin production File RNAi simplified.png thumb alt Simplified diagram of RNA interference ... of mutant huntingtin are correction of transcriptional regulation using histone deacetylase inhibitor s, modulating Protein aggregation aggregation of huntingtin, improving metabolism and Mitochondria ... huntingtin aggregation in cellular models of Huntington s disease journal Proc. Natl. Acad. Sci. U.S.A. ... preferentially targets amino terminal Huntingtin s fragments in striatal models of Huntington s disease ... ref In 2009 this led to publication of a predicted structure for the Huntingtin protein headpiece ... structure of the headpiece of the Huntingtin protein and its implications on Huntingtin aggregation ... more details
The Hereditary Disease Foundation HDF aims to cure genetic disorder s by supporting basic biomedical research . ref name HDF About Us cite web url http www.hdfoundation.org aboutus.php title Hereditary Disease Foundation About Us date 2008 work publisher Hereditary disease foundation accessdate 2009 03 27 ref History File Nancy Wexler.jpg thumb right Nancy Wexler current president of the HDF In 1968, after experiencing Huntington s disease HD in his wife s family, Dr. Milton Wexler was inspired to start the Hereditary Disease Foundation, with the aim of curing genetic illnesses by coordinating and supporting research. ref name HDF About Us At a workshop held by the HDF in 1979, participants proposed to map the human genome and find a marker for the gene which causes HD. The HDF, together with NINDS and Dr. Wexler s daughter, Nancy Wexler , organized the US Venezuela Huntington s Disease Collaborative Research Project. This project studied a kindred with an unusually high prevalence of HD. In 1983 a marker for gene was found, and in the next decade, with further HDF involvement the exact gene Huntingtin was found. A lot of techniques developed in finding the Huntingtin gene were used to advance the Human Genome Project . ref name pmid19828782 cite journal author Young AB title Four decades of neurodegenerative disease research How far we have come journal J. Neurosci. volume 29 issue 41 pages 12722 8 year 2009 month October pmid 19828782 pmc 2807668 doi 10.1523 JNEUROSCI.3767 09.2009 url ref ref name pmid8458085 cite journal author last1 MacDonald first1 M title A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington s disease chromosomes. The Huntington s Disease Collaborative Research Group journal Cell volume 72 issue 6 pages 971 83 year 1993 month March pmid 8458085 doi 10.1016 0092 8674 93 90585 E url ref The Huntingtin gene was also one of the first disease genes to be found, its discovery and debates raised have provided the ... more details
protein Apoptin interacts with Hippi, the protein interactor of Huntingtin interacting protein 1. journal ... of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin interacting ... death effector domain of HIPPI, a molecular partner of Huntingtin interacting protein HIP 1. journal ... more details
cite journal author Faber PW, Barnes GT, Srinidhi J, et al. title Huntingtin interacts with a family ... Huntingtin s WW domain partners in Huntington s disease post mortem brain fulfill genetic criteria ... more details
PBB geneid 9026 Huntingtin interacting protein 1 related protein is a protein that in humans is encoded by the HIP1R gene . ref name pmid16415883 cite journal author Brett TJ, Legendre Guillemin V, McPherson PS, Fremont DH title Structural definition of the F actin binding THATCH domain from HIP1R journal Nat Struct Mol Biol volume 13 issue 2 pages 121 30 year 2006 month Feb pmid 16415883 pmc doi 10.1038 nsmb1043 ref ref name entrez cite web title Entrez Gene HIP1R huntingtin interacting protein 1 related url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 9026 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Parker JA, Metzler M, Georgiou J, et al. title Huntingtin interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity. journal J. Neurosci. volume 27 issue 41 pages 11056 64 year 2007 pmid 17928447 doi 10.1523 JNEUROSCI.1941 07.2007 cite journal author Bradley SV, Hyun TS, Oravecz Wilson KI, et al. title Degenerative phenotypes caused by the combined deficiency of murine HIP1 and HIP1r are rescued by human HIP1. journal Hum. Mol. Genet. volume 16 issue 11 pages 1279 92 year 2007 pmid 17452370 doi 10.1093 hmg ddm076 cite journal author Proven al N, Shink E, Harvey M, et al. title Analysis of a variable number tandem repeat polymorphism in the huntingtin interacting protein 1 related gene for anticipation in bipolar affective disorder. journal Prog. Neuropsychopharmacol. Biol. Psychiatry volume 28 issue 8 pages 1299 303 year 2005 pmid ..., an interacting protein with huntingtin. journal Mamm. Genome volume 11 issue 11 pages 1006 15 year ... al. title Cloning, expression analysis, and chromosomal localization of HIP1R, an isolog of huntingtin ... more details
Huntingtin interacts with a family of WW domain proteins journal Hum. Mol. Genet. volume 7 issue ... interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington s disease ... more details
cite journal author Faber PW, Barnes GT, Srinidhi J, et al. title Huntingtin interacts with a family ... H, Lalowski M, Stelzl U, et al. title A protein interaction network links GIT1, an enhancer of huntingtin ... more details
Infobox Disease Name Organ limited amyloidosis Image Caption DiseasesDB ICD10 ICD10 E 85 4 e 70 ICD9 ICD9 277.3 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Organ limited amyloidosis is a category of amyloidosis where the distribution can be associated primarily with a single organ. It is contrasted to systemic amyloidosis, and it can be caused by several different types of amyloid . ref name urlMayo Clinic Proceedings cite web url http www.mayoclinicproceedings.com Abstract.asp?AID 235&Abst Extract&UID title Mayo Clinic Proceedings format work accessdate ref In almost all of the organ specific pathologies, there is significant debate as to whether the amyloid plaques are the causal agent of the disease or instead a downstream consequence of a common idiopathic agent. The associated proteins are indicated in parentheses. Neurological amyloid Alzheimer s disease Amyloid beta A 39 43 Parkinson s disease alpha synuclein Huntington s disease huntingtin protein Transmissible spongiform encephalopathy Transmissible spongiform encephalopathies caused by prion prion protein PrP were sometimes classed as amyloidoses, as one of the four pathological features in diseased tissue is the presence of amyloid plaques . These diseases include Creutzfeldt Jakob disease PrP in cerebrum Kuru disease Kuru diffuse PrP deposits in brain Fatal Familial Insomnia PrP in thalamus Bovine spongiform encephalopathy PrP in cerebrum of cows Cardiovascular amyloid Cardiac amyloidosis Senile cardiac amyloidosis may cause heart failure Congophilic angiopathy Other Amylin deposition can occur in the pancreas in some cases of Diabetes mellitus type 2 type 2 diabetes mellitus References reflist Amyloidosis Category Histopathology Category Structural proteins ... more details
Gillian Patricia Bates FMedSci Royal Society FRS is a British biologist. She is distinguished for her research into the molecular basis of Huntington s disease . As of 2009, she is Professor of Neurogenetics in the Medical and Molecular Genetics Department of King s College London . Research Bates s research has focused on Huntington s disease . She was one of the group who first cloned the Huntingtin Huntington s disease gene . She also created the first mouse model of the disease, the R6 2 mouse, an important step in understanding the pathogenesis of Huntington s. ref name RS bio http royalsociety.org publication.asp?id 7705 Royal Society New Fellows 2007 Amos Bruce accessed 6 January 2009 ref Awards and honours Bates has been elected a fellow of the Academy of Medical Sciences 1999 and of the Royal Society 2007 , as well as a member of the European Molecular Biology Organisation 2002 . ref name RS bio ref name AMS bio http www.acmedsci.ac.uk p59fid374.html Academy of Medical Sciences Fellows Professor Gillian Bates accessed 6 January 2009 ref ref http www.embo.org communities searchMembers.php EMBO Search for an EMBO member accessed 6 January 2009 ref In 1998, she was awarded the Royal Society Glaxo Wellcome Award jointly with Stephen Davies biologist Stephen Davies , for the discovery of the cause of Huntington s Disease . ref http royalsociety.org page.asp?id 1779 Royal Society GlaxoSmithKline previous winners 2005 1980 accessed 6 January 2009 ref References reflist External links http www.kcl.ac.uk schools medicine depts memoge research neurogenetics Kings College London Neurogenetics Professor Gillian Bates Persondata Metadata see Wikipedia Persondata . NAME Bates, Gillian ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH PLACE OF BIRTH DATE OF DEATH PLACE OF DEATH DEFAULTSORT Bates, Gillian Category Female Fellows of the Royal Society Category Fellows of the Academy of Medical Sciences Category Living people Category Academics of King s College London UK bio ... more details
Pfam box Symbol HEAT Name HEAT repeat image PDB 1b3u EBI.jpg width caption Structure of the protein phosphatase 2A PR65 A subunit revealing the conformation of its 15 tandemly repeated HEAT motifs. ref name pmid9989501 cite journal author Groves MR, Hanlon N, Turowski P, Hemmings BA, Barford D title The structure of the protein phosphatase 2A PR65 A subunit reveals the conformation of its 15 tandemly repeated HEAT motifs journal Cell volume 96 issue 1 pages 99 110 year 1999 month January pmid 9989501 doi 10.1016 S0092 8674 00 80963 0 url ref Pfam PF02985 InterPro IPR000357 SMART PROSITE PDOC50077 SCOP 1b3u TCDB OPM family OPM protein PDB PDB2 1b3u , PDB2 1f59 , PDB2 1gcj , PDB2 1ibr , PDB2 1m5n , PDB2 1o6o , PDB2 1o6p , PDB2 1qbk , PDB2 1qgr , PDB2 1u6g , PDB2 1ukl , PDB2 2bku The HEAT repeat domain is a protein domain found in a number of cytoplasm cytoplasmic proteins including the four that the give rise to the acronym HEAT huntingtin u H u untingtin , elongation factor 3 u E u F3 , protein phosphatase 2A PP2 u A u , and the yeast phosphoinositide 3 kinase PI3 kinase u T u OR1 . ref name pmid7550332 cite journal author Andrade MA, Bork P title HEAT repeats in the Huntington s disease protein journal Nat. Genet. volume 11 issue 2 pages 115 6 year 1995 month October pmid 7550332 doi 10.1038 ng1095 115 url ref HEAT repeats form a rod like helical structures which are involved in intracellular transport. References Reflist Category Protein domains Protein stub ... more details
selfref For Wikipedia s help desk, see Wikipedia Help Desk . wiktionary HD tocright HD may refer to Science and technology High definition disambiguation High definition , reference to high definition video high definition television HDTV Intel High Definition Audio Wideband audio HD Voice Hard disk , a computer device which stores digitally encoded data, also known as hard drive or hard disk drive Hard disk drive HDD Henry Draper Catalogue , an astronomical catalogue often used to designate stars High density , in reference to a floppy disk, other magnetic media or the optical formats HD DVD and Blu ray Disc Hybrid drive , a type of notebook computer hard drive that utilizes a large buffer Hydrogen deuteride , a diatomic compound of hydrogen and deuterium HD Radio , an abbreviation from the term Hybrid Digital analog radio HD Photo , an image format The chemical warfare agent sulfur mustard , which in its distilled form is referred to as HD Hyperdeformation , extremely deformed atomic nuclei High density polyethylene , a high density polyethylene plastic material seen in milk containers and various juice beverages Human Development disambiguation Academia Higher diploma , an academic award National History Day , an American history competition, somewhat similar to Science Fair Business Harley Davidson , an iconic American motorcycle manufacturer established in 1903 Headphone Dust , a record label run by music artist Steven Wilson Hokkaido International Airlines , a Japanese low cost airline with IATA designator HD established in 1996 The Home Depot , a chain of home improvement warehouse retailers established in 1978 Medicine Hansen s disease , an eponymous name for leprosy Hemodialysis , a form of renal dialysis Hip dysplasia disambiguation Hip dysplasia Hirschsprung s disease Hodgkin s disease , a form of lymphoma Hormone disruptor Huntington s disease , a genetic disorder affecting the central nervous system The huntingtin HD gene , encoding huntingtin , which c ... more details
with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results ... Interactions Optineurin has been shown to Protein protein interaction interact with Huntingtin ... Barnes G T, Srinidhi J, Chen J, Gusella J F, MacDonald M E year 1998 month Sep. title Huntingtin ... coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis journal Curr. Biol. volume ... J, et al. title Huntingtin interacts with a family of WW domain proteins. journal Hum. Mol. Genet ..., links Huntingtin to Rab8 and modulates cellular morphogenesis. journal Curr. Biol. volume 10 issue ... more details
S, Wedemeyer N, et al. title SH3GL3 associates with the Huntingtin exon 1 protein and promotes ... family, new interacting partners for dynamin, synaptojanin and huntingtin proteins. volume 348 journal ..., an enhancer of huntingtin aggregation, to Huntington s disease. journal Mol. Cell volume 15 issue ... author Ralser M, Nonhoff U, Albrecht M, et al. title Ataxin 2 and huntingtin interact with endophilin ... more details
, Lee Jacqueline E year 2003 month Aug. title Stimulation of NeuroD activity by huntingtin and huntingtin ... ref Huntingtin , ref name pmid10801775 cite journal last Liu first Y F authorlink coauthors Dorow ... expanded huntingtin journal J. Biol. Chem. volume 275 issue 25 pages 19035 40 publisher location ... of MLK2 mediated signaling cascades by polyglutamine expanded huntingtin journal J. Biol. Chem. volume ... more details
PBB geneid 8997 Kalirin also known as Huntingtin associated protein interacting protein HAPIP , protein duo DUO , or serine threonine protein kinase with Dbl and pleckstrin homology domain is a protein that in humans is encoded by the KALRN gene . ref name pmid9285789 ref name pmid10023074 Kalirin was first identified in 1997 as a protein interacting with huntingtin associated protein 1 . ref name pmid9285789 Is also known to play an important role in nerve growth and axonal development. ref name pmid15923627 Kalirin is a member of Dbl family of proteins and a Rho guanine nucleotide exchange factor. It is named after the multiple handed Hindu goddess K l Kali for its ability to interact with numerous other proteins. Kalirin s other name, DUO, comes from the fact that it is 98 identical to rat DUO protein and 80.6 identical to a human protein named TRIO gene TRIO . Unlike TRIO, which is expressed in numerous tissues, Kalirin isoforms are mainly found in the brain. Clinical significance Several isoform s of Kalirin are produced through alternative splicing . ref name pmid11891045 One of the isoforms, Kalirin 7, was found to be necessary for the synaptic plasticity remodeling of synapses in mature cortical neurons and is thought to be important in the development of schizophrenia , ref name pmid18031682 ref name pmid19020030 ref name pmid19403804 ref name pmid 18597863 as demonstrated by adolescent development of schizophrenia like symptoms in kalirin knockout mice. ref name pmid19625617 Alzheimer s disease may also be linked to kalirin 7. ref name pmid 18597863 ref name pmid18057561 ref name pmid17851188 References reflist 2 refs ref name pmid9285789 cite journal author Colomer V, Engelender S, Sharp AH, Duan K, Cooper JK, Lanahan A, Lyford G, Worley P, Ross CA title Huntingtin associated protein 1 HAP1 binds to a Trio like polypeptide, with a rac1 guanine nucleotide exchange factor domain journal Hum. Mol. Genet. volume 6 issue 9 pages 1519 25 year 1997 month September ... more details
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