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The Journal of biological chemistry, ISSN 0021-9258, 04/2019, Volume 294, Issue 16, pp. 6353 - 6363
The kinesin-3 family member KIF1A plays a critical role in site-specific neuronal cargo delivery during axonal transport. KIF1A cargo is mislocalized in many... 
post-translational modification (PTM) | BETA-TUBULIN | single-molecule biophysics | polyglutamylation | cytoskeleton | kinesin | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRONTOTEMPORAL DEMENTIA | neuron | TAU | AXONAL-TRANSPORT | POSTTRANSLATIONAL MODIFICATIONS | PROTEIN KIF1A | K-loop | MOTOR KIF1A | microtubule | CARGO TRANSPORT | ALPHA-TUBULIN | KIF1A | molecular motor
Journal Article
NEUROLOGY, ISSN 0028-3878, 08/2014, Volume 83, Issue 7, pp. 612 - 619
Objective: To establish the phenotypic spectrum of KIF5A mutations and to investigate whether KIF5A mutations cause axonal neuropathy associated with... 
KINESIN | NEUROPATHY | NEUROFILAMENT TRANSPORT | GENE | HEREDITARY SPASTIC PARAPLEGIA | KIF1A | CLINICAL NEUROLOGY
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Nature Communications, ISSN 2041-1723, 09/2016, Volume 7, Issue 1, p. 12741
Synaptic plasticity often involves changes in the structure and composition of dendritic spines. Vesicular cargos and organelles enter spines either by... 
AMPA RECEPTORS | BDNF | MULTIDISCIPLINARY SCIENCES | CULTURED NEURONS | MOTOR | DYNAMICS | AXONAL-TRANSPORT | PROTEIN KIF1A | LONG-TERM POTENTIATION | HIPPOCAMPAL-NEURONS | MORPHOLOGY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 3, pp. 306 - 316
Journal Article
Current Biology, ISSN 0960-9822, 01/2019, Volume 29, Issue 2, pp. 268 - 282.e8
Neurons in the CNS establish thousands of synapses along their axons. Robust neurotransmission depends on the replenishment of synaptic components in a... 
synaptic strength | dynein | kinesin | microtubule dynamics | axonal transport | KIF1A | synaptic vesicles | ORGANIZATION | LYSOSOMES | TUBULIN TYROSINATION | CAP | INSTABILITY | DYNEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOTOR | AXONAL-TRANSPORT | BINDING PROTEIN | REVEALS | CELL BIOLOGY | Medical colleges | Neurons | Dynein | Resveratrol | Physiological aspects | Tubulins | Kinesin | Protein binding
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 12/2018, Volume 115, Issue 51, pp. 12845 - 12847
Al-Bassam and Nithianantham comment on the study by Ren et al on malleable folding of coiled-coils regulates kinesin-3 dimerization by utilizing a combination... 
UNC-104 | MULTIDISCIPLINARY SCIENCES | MUTATION | MOTOR PROTEIN | SUPERFAMILY | AXONAL-TRANSPORT | KIF1A | Physiological aspects | Observations | Protein folding | Kinesin | Coils | Motors | Biochemistry | Helices | Crystallography | X-ray crystallography | Domains | Clonal deletion | Deletion | Dimerization | ATP | Folding | Crystal structure | Biological Sciences | Commentaries
Journal Article
by Zhou, CK and Zhu, LJ and Li, XY and Du, HQ and Dong, SS and Liu, Q and Fang, SK
NEUROLOGY ASIA, ISSN 1823-6138, 06/2017, Volume 22, Issue 2, pp. 161 - 163
Hereditary spastic paraplegia is a heterogeneous group of genetic neurodegenerative disorders of the nervous system. It is classified into four subtypes based... 
Hereditary spastic paraplegia | SPG30 | NEUROPATHY | KIF1A | CLINICAL NEUROLOGY | FEATURES
Journal Article