Affinage

KIF1B

Kinesin-like protein KIF1B · UniProt O60333

Length
1816 aa
Mass
204.5 kDa
Annotated
2026-04-28
100 papers in source corpus 9 papers cited in narrative 9 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

KIF1B is a kinesin-3 family microtubule plus end-directed motor protein that functions in the intracellular transport of diverse cargoes depending on isoform identity. The KIF1Bα isoform operates as a monomer to transport mitochondria along microtubules, while the brain-enriched KIF1Bβ isoform, which lacks the mitochondria-binding domain, transports myelin basic protein (MBP) mRNA to oligodendrocyte processes and delivers SCG10 (Stathmin-2) to axon growth cones via a KBP-dependent mechanism, thereby regulating myelination and axonal outgrowth (PMID:7528108, PMID:19503091, PMID:27358458). Alternative splicing of K-loop and hinge sequences near the motor domain modulates microtubule-dependent ATPase activity and microtubule affinity without altering motility velocity (PMID:19744141). KIF1B additionally mediates leptin-induced cell surface trafficking of MT1-MMP, promoting cellular invasion in cancer contexts (PMID:23354307, PMID:26576027).

Mechanistic history

Synthesis pass · year-by-year structured walk · 7 steps
  1. 1994 High

    Identification of KIF1B as a monomeric kinesin-family motor that transports mitochondria along microtubules established the first cargo assignment and structural mode for this motor.

    Evidence Rotary shadowing EM, immunocytochemistry, subcellular fractionation, and in vitro motility reconstitution in mammalian cells

    PMID:7528108

    Open questions at the time
    • Whether additional cargoes exist beyond mitochondria was unknown
    • Mechanism of cargo recognition and attachment not defined
    • In vivo loss-of-function phenotype not yet tested
  2. 1999 Medium

    Discovery of multiple alternatively spliced isoforms — particularly KIF1Bβ, which lacks the mitochondria-binding domain — revealed that a single gene encodes motors with distinct cargo specificities.

    Evidence cDNA cloning, Northern blot, and sequence analysis identifying at least eight splice variants including the 204 kDa KIF1Bβ isoform

    PMID:10341097 PMID:10571041

    Open questions at the time
    • Cargo identity for KIF1Bβ not experimentally determined
    • Functional consequences of the multiple minor splice variants unknown
    • No loss-of-function data for individual isoforms
  3. 2009 High

    Demonstration that Kif1b transports MBP mRNA to oligodendrocyte processes in zebrafish established KIF1B as an mRNA transport motor critical for proper myelination, expanding its cargo repertoire beyond mitochondria.

    Evidence Zebrafish loss-of-function mutant with in situ hybridization and immunofluorescence showing mRNA mislocalization and ectopic myelin

    PMID:19503091

    Open questions at the time
    • Whether mRNA transport is a direct or adaptor-mediated function not resolved
    • Which KIF1B isoform mediates MBP mRNA transport not formally shown
    • Mammalian validation not yet provided
  4. 2009 High

    Biochemical dissection of K-loop splice variants showed that insertions near the motor domain enhance ATPase activity and microtubule affinity without changing velocity, revealing a regulatory layer for motor tuning.

    Evidence In vitro ATPase assays, motility assays, and mutational analysis of K-loop insertions

    PMID:19744141

    Open questions at the time
    • Physiological significance of ATPase modulation in vivo not tested
    • Whether K-loop variants associate with different cargoes is unknown
    • Structural basis of enhanced microtubule affinity not resolved
  5. 2013 Medium

    Identification of KIF1B as a transporter of MT1-MMP to the cell surface in response to leptin signaling extended KIF1B function to regulated membrane protein trafficking in cancer cell invasion.

    Evidence Co-immunoprecipitation, siRNA knockdown, cell surface biotinylation, and invasion assays in gastric cancer cells; replicated in glioma cells

    PMID:23354307 PMID:26576027

    Open questions at the time
    • Direct binding domain on KIF1B for MT1-MMP not mapped
    • Whether this function uses KIF1Bα or KIF1Bβ is unclear
    • Mechanism linking leptin signaling to KIF1B-MT1-MMP interaction not defined
  6. 2016 High

    Genetic epistasis experiments established that KIF1B transports SCG10 to axon growth cones via the adaptor KBP, linking KIF1B cargo delivery to microtubule stability and axon outgrowth — and separating this function from mitochondrial transport.

    Evidence Zebrafish mutant genetics with live imaging, SCG10 overexpression rescue, and microtubule stability assays

    PMID:27358458

    Open questions at the time
    • Structural basis of KIF1B–KBP interaction not resolved
    • Whether KBP is required for other KIF1B cargoes remains untested
    • Mammalian validation of the KIF1B–KBP–SCG10 axis not shown
  7. 2016 Medium

    KIF1B was shown to be required for spindle assembly, chromosome congression, and mitochondrial distribution during oocyte meiosis, broadening its roles beyond interphase transport.

    Evidence Morpholino and antibody-based depletion in mouse oocytes with immunofluorescence, confocal imaging, and aneuploidy scoring

    PMID:27696585

    Open questions at the time
    • Mechanism by which KIF1B contributes to spindle assembly is unclear
    • Whether spindle/chromosome functions reflect direct motor activity or indirect effects of mitochondrial misdistribution not resolved
    • Single-lab observation not independently replicated

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis for isoform-specific cargo recognition, the identity of adaptors linking KIF1Bβ to MBP mRNA, and whether the meiotic spindle function represents a direct mechanical role or a secondary consequence of impaired organelle distribution.
  • No structural model of KIF1B cargo-binding domains with their respective cargoes
  • RNA-binding adaptor for MBP mRNA transport not identified
  • In vivo relevance of KIF1B-MT1-MMP axis in non-cancer tissues unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0003774 cytoskeletal motor activity 2 GO:0140657 ATP-dependent activity 2
Localization
GO:0005856 cytoskeleton 3 GO:0005739 mitochondrion 2 GO:0005829 cytosol 1
Pathway
R-HSA-9609507 Protein localization 5 R-HSA-1266738 Developmental Biology 2 R-HSA-1852241 Organelle biogenesis and maintenance 2
Partners
KBPMBPMMP14STMN2

Evidence

Reading pass · 9 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1994 KIF1B is a monomeric, microtubule plus end-directed motor protein that transports mitochondria. Rotary shadowing electron microscopy showed mostly single globular structures (monomer). Immunocytochemistry showed colocalization with mitochondria in vivo; subcellular fractionation concentrated KIF1B in the mitochondrial fraction; and purified KIF1B transported mitochondria along microtubules in vitro. Rotary shadowing EM, immunocytochemistry, subcellular fractionation, in vitro motility assay Cell High 7528108
1999 The Kif1b gene generates at least two major isoforms by alternative splicing: a shorter 130 kDa isoform (KIF1Bα, mitochondria-transporting) and a longer 204 kDa isoform (KIF1Bβ) with a novel C-terminal cargo-binding domain homologous to KIF1A, suggesting distinct cargo-binding specificity. Additional alternative splicing of two exons in the conserved region adjacent to the motor domain yields at least eight total isoforms. cDNA cloning, Northern blot, sequence analysis Gene Medium 10571041
1999 The major brain isoform of KIF1B (KIF1Bβ/p204) lacks the putative mitochondria-binding domain present in KIF1Bα, indicating it likely has a different cargo specificity from the mitochondria-transporting isoform. cDNA library screening, Northern blot, sequence analysis Mammalian genome Medium 10341097
2009 Kif1b is required for the localization of mbp (myelin basic protein) mRNA to the processes of myelinating oligodendrocytes in zebrafish. Loss of Kif1b causes ectopic appearance of myelin-like membrane coincident with ectopic localization of myelin proteins in oligodendrocyte cell bodies, demonstrating a role in mRNA transport/localization rather than solely in mitochondria or synaptic vesicle transport. Zebrafish genetic mutant analysis, in situ hybridization, immunofluorescence Nature genetics High 19503091
2009 Alternative splice variants of KIF1B that contain insertion sequences in the K-loop and hinge regions adjacent to the motor domain have higher microtubule-dependent ATPase activity and higher microtubule affinity than variants lacking these insertions. Motility velocity is similar between variants, indicating the insertions modulate enzymatic activity but not the rate of movement. Microtubule-dependent ATPase assay, in vitro motility assay, mutational analysis of K-loop insertion Traffic High 19744141
2013 Leptin enhances the physical interaction between KIF1B and MT1-MMP (membrane type 1-matrix metalloproteinase) in gastric cancer cells (shown by co-immunoprecipitation). KIF1B knockdown by siRNA inhibits leptin-induced cell surface localization of MT1-MMP (measured by cell surface biotinylation and flow cytometry) without affecting total MT1-MMP protein levels, demonstrating that KIF1B mediates leptin-driven transport of MT1-MMP to the cell surface to promote invasion. Co-immunoprecipitation, siRNA knockdown, cell surface biotinylation, flow cytometry, transwell invasion assay Carcinogenesis Medium 23354307
2015 KIF1B promotes cell surface localization of MT1-MMP in glioma cells; siRNA-mediated KIF1B knockdown suppresses membrane MT1-MMP levels (without affecting total cell lysate levels) and inhibits glioma cell migration and invasion. siRNA knockdown, subcellular fractionation/surface MT1-MMP measurement, transwell migration/invasion assay Oncology reports Medium 26576027
2016 KIF1B interacts with KBP (KIF1-binding protein) to transport SCG10 (Stathmin-2) anterogradely to axon growth cones. Loss of Kif1b or KBP in zebrafish reduces SCG10 levels at growth cones, alters microtubule stability, and truncates axons. Axon truncation in kbp mutants is suppressed by SCG10 overexpression, placing SCG10 directly downstream of Kif1B-KBP in the pathway. Notably, loss of Kif1B or KBP did not impair mitochondrial transport in this context. Zebrafish mutant genetics, in vivo live imaging, genetic epistasis (rescue by SCG10 overexpression), microtubule stability assay The Journal of neuroscience High 27358458
2016 KIF1B is required for spindle assembly, chromosome congression, and mitochondrial distribution during mouse oocyte meiotic maturation and early embryonic development. KIF1B depletion (morpholino/antibody inhibition) causes abnormal polar body extrusion, disordered spindle dynamics, defects in chromosome congression, increased aneuploidy, altered mitochondrial distribution, and reduced ATP levels. Loss-of-function by morpholino depletion and antibody inhibition, immunofluorescence, confocal imaging, aneuploidy scoring in mouse oocytes Molecular reproduction and development Medium 27696585

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1994 KIF1B, a novel microtubule plus end-directed monomeric motor protein for transport of mitochondria. Cell 495 7528108
2007 Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations. The Journal of cell biology 285 17296794
2011 MFN2 mutations cause severe phenotypes in most patients with CMT2A. Neurology 173 21508331
2019 Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset. Nature communications 140 31664033
2005 Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 139 16043786
1993 Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 139 8406488
2002 Identification of a MAD2-binding protein, CMT2, and its role in mitosis. The EMBO journal 138 12456649
2008 Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nature genetics 136 18997785
2009 Kif1b is essential for mRNA localization in oligodendrocytes and development of myelinated axons. Nature genetics 134 19503091
2008 A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. Human genetics 123 18726616
2005 The KLP-6 kinesin is required for male mating behaviors and polycystin localization in Caenorhabditis elegans. Current biology : CB 104 15753033
2002 A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 77 12481988
2003 Localization of Pavarotti-KLP in living Drosophila embryos suggests roles in reorganizing the cortical cytoskeleton during the mitotic cycle. Molecular biology of the cell 68 14517316
2018 Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy. EMBO reports 65 29898954
2011 Kinesin-3 KLP-6 regulates intraflagellar transport in male-specific cilia of Caenorhabditis elegans. Current biology : CB 59 21757353
2007 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome. Journal of the neurological sciences 57 17663003
2003 Identification and functional analysis of six mycolyltransferase genes of Corynebacterium glutamicum ATCC 13032: the genes cop1, cmt1, and cmt2 can replace each other in the synthesis of trehalose dicorynomycolate, a component of the mycolic acid layer of the cell envelope. Archives of microbiology 56 12740729
2003 KLP-18, a Klp2 kinesin, is required for assembly of acentrosomal meiotic spindles in Caenorhabditis elegans. Molecular biology of the cell 54 12937278
2011 HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients. Journal of the peripheral nervous system : JPNS 53 22176143
2004 Loss of KLP-19 polar ejection force causes misorientation and missegregation of holocentric chromosomes. The Journal of cell biology 53 15452142
2019 Common alleles of CMT2 and NRPE1 are major determinants of CHH methylation variation in Arabidopsis thaliana. PLoS genetics 50 31887137
2020 HDAC6 inhibition promotes α-tubulin acetylation and ameliorates CMT2A peripheral neuropathy in mice. Experimental neurology 49 32147437
2016 Assembly of Caenorhabditis elegans acentrosomal spindles occurs without evident microtubule-organizing centers and requires microtubule sorting by KLP-18/kinesin-12 and MESP-1. Molecular biology of the cell 46 27559133
2020 Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A. eLife 44 33074106
2013 Leptin-mediated regulation of MT1-MMP localization is KIF1B dependent and enhances gastric cancer cell invasion. Carcinogenesis 43 23354307
2015 KLP-7 acts through the Ndc80 complex to limit pole number in C. elegans oocyte meiotic spindle assembly. The Journal of cell biology 42 26370499
2017 Inhibition of ectopic microtubule assembly by the kinesin-13 KLP-7 prevents chromosome segregation and cytokinesis defects in oocytes. Development (Cambridge, England) 41 28289130
1997 Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. Neurology 38 9409358
2010 A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype. Journal of the neurological sciences 36 20870250
2009 A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. Molecular biology of the cell 34 19812251
2013 The KIF1B (rs17401966) single nucleotide polymorphism is not associated with the development of HBV-related hepatocellular carcinoma in Thai patients. Asian Pacific journal of cancer prevention : APJCP 32 23803045
1997 Pax-5 is identical to EBB-1/KLP and binds to the VpreB and lambda5 promoters as well as the KI and KII sites upstream of the Jkappa genes. European journal of immunology 32 9079818
2015 The KLP-7 Residue S546 Is a Putative Aurora Kinase Site Required for Microtubule Regulation at the Centrosome in C. elegans. PloS one 31 26168236
2015 KIF1B promotes glioma migration and invasion via cell surface localization of MT1-MMP. Oncology reports 30 26576027
1999 A novel mouse kinesin of the UNC-104/KIF1 subfamily encoded by the Kif1b gene. Gene 30 10571041
1998 Immunostimulatory effects of dimerized lysozyme (KLP-602) on the nonspecific defense mechanisms and protection against furunculosis in salmonids. Veterinary immunology and immunopathology 30 9613448
2012 The kinesin-3 family motor KLP-4 regulates anterograde trafficking of GLR-1 glutamate receptors in the ventral nerve cord of Caenorhabditis elegans. Molecular biology of the cell 29 22855524
2001 Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2. Oncogene 29 11526494
1996 mRNA expression of KIF1A, KIF1B, KIF2, KIF3A, KIF3B, KIF4, KIF5, and cytoplasmic dynein during axonal regeneration. The Journal of neuroscience : the official journal of the Society for Neuroscience 28 8613797
1999 The major brain isoform of kif1b lacks the putative mitochondria-binding domain. Mammalian genome : official journal of the International Mammalian Genome Society 27 10341097
2007 Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A). European journal of neurology 26 17437620
2016 Kif1B Interacts with KBP to Promote Axon Elongation by Localizing a Microtubule Regulator to Growth Cones. The Journal of neuroscience : the official journal of the Society for Neuroscience 25 27358458
2012 HBV-related hepatocellular carcinoma susceptibility gene KIF1B is not associated with development of chronic hepatitis B. PloS one 25 22363396
2013 Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. Neurogenetics 24 24072599
2022 MITOL-mediated DRP1 ubiquitylation and degradation promotes mitochondrial hyperfusion in a CMT2A-linked MFN2 mutant. Journal of cell science 22 34870686
2016 MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients. Journal of the peripheral nervous system : JPNS 22 26801520
2012 Role of single nucleotide polymorphisms of KIF1B gene in HBV-associated viral hepatitis. PloS one 21 23028799
1997 Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 21 10732809
2019 Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art. Molecular neurobiology 20 30830587
2018 A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 20 29361379
2013 Genetic polymorphism of the kinesin-like protein KIF1B gene and the risk of hepatocellular carcinoma. PloS one 19 23634229
2022 Circ_0003611 regulates apoptosis and oxidative stress injury of Alzheimer's disease via miR-383-5p/KIF1B axis. Metabolic brain disease 18 35960460
2020 Contiguous and stochastic CHH methylation patterns of plant DRM2 and CMT2 revealed by single-read methylome analysis. Genome biology 17 32762764
2016 Loss of function of KIF1B impairs oocyte meiotic maturation and early embryonic development in mice. Molecular reproduction and development 17 27696585
2009 Altered motor activity of alternative splice variants of the mammalian kinesin-3 protein KIF1B. Traffic (Copenhagen, Denmark) 17 19744141
1992 Characterization of a new kallikrein-like enzyme (KLP-S3) of the rat submandibular gland. The Biochemical journal 17 1536657
2024 MFN2 coordinates mitochondria motility with α-tubulin acetylation and this regulation is disrupted in CMT2A. iScience 16 38883841
2022 Structural model of microtubule dynamics inhibition by kinesin-4 from the crystal structure of KLP-12 -tubulin complex. eLife 15 36065637
2012 Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C). Neuromolecular medicine 15 22331516
2000 Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2. International journal of oncology 15 10762626
2022 Mitochondria Clumping vs. Mitochondria Fusion in CMT2A Diseases. Life (Basel, Switzerland) 14 36556475
2020 Defective nucleotide-dependent assembly and membrane fusion in Mfn2 CMT2A variants improved by Bax. Life science alliance 14 32245838
2016 Effects of interactions between environmental factors and KIF1B genetic variants on the risk of hepatocellular carcinoma in a Chinese cohort. World journal of gastroenterology 14 27122668
2012 A novel p.Gln175X [corrected] premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2. Journal of the peripheral nervous system : JPNS 14 22734906
2005 Stretchin-klp, a novel Drosophila indirect flight muscle protein, has both myosin dependent and independent isoforms. Journal of muscle research and cell motility 14 16270160
2022 CMT2A-linked mitochondrial hyperfusion-driving mutant MFN2 perturbs ER-mitochondrial associations and Ca2+ homeostasis. Biology of the cell 13 35924634
2021 Aberrant Mitochondrial Dynamics and Exacerbated Response to Neuroinflammation in a Novel Mouse Model of CMT2A. International journal of molecular sciences 13 34769001
2006 Dynactin targets Pavarotti-KLP to the central spindle during anaphase and facilitates cytokinesis in Drosophila S2 cells. Journal of cell science 13 17046997
1997 Molecular cloning and expression of the Caenorhabditis elegans klp-3, an ortholog of C terminus motor kinesins Kar3 and ncd. Journal of molecular biology 13 9245592
2022 Circ_0049472 regulates the damage of Aβ-induced SK-N-SH and CHP-212 cells by mediating the miR-107/KIF1B axis. Experimental brain research 12 35881155
2010 Lack of replication of KIF1B gene in an Italian primary progressive multiple sclerosis cohort. European journal of neurology 12 20067515
2010 Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs. Muscle & nerve 12 20806400
2020 CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity. International medical case reports journal 11 32110117
2012 A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. Journal of the peripheral nervous system : JPNS 11 22971097
2021 CircPOSTN competes with KIF1B for miR-185-5p binding sites to promote the tumorigenesis of glioma. Brain research bulletin 10 34974134
2017 A Botrytis cinerea KLP-7 Kinesin acts as a Virulence Determinant during Plant Infection. Scientific reports 10 28878341
2016 Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations. Journal of the peripheral nervous system : JPNS 10 27706887
2005 Mutational study of the 1p located genes p18ink4c, Patched-2, RIZ1 and KIF1B in oligodendrogliomas. Oncology reports 10 15711769
2021 Loose Plant Architecture 1-Interacting Kinesin-like Protein KLP Promotes Rice Resistance to Sheath Blight Disease. Rice (New York, N.Y.) 9 34215911
2020 Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B. Endocrine connections 9 33112832
2013 Mitofusin 2 gene mutation causing early-onset CMT2A with different progressive courses. Clinical neuropathology 9 22762946
2011 Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation. Journal of the neurological sciences 9 21601224
2004 Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene. Neurology 9 15136675
1999 Effects of dimerized lysozyme (KLP-602) on the cellular and humoral defence mechanisms in sheatfish (Silurus glanis): in vitro and in vivo study. Veterinary research 9 10478423
2024 Comparative analysis of two Caenorhabditis elegans kinesins KLP-6 and UNC-104 reveals a common and distinct activation mechanism in kinesin-3. eLife 7 38206323
2022 Structure and biological evaluation of Caenorhabditis elegans CISD-1/mitoNEET, a KLP-17 tail domain homologue, supports attenuation of paraquat-induced oxidative stress through a p38 MAPK-mediated antioxidant defense response. Advances in redox research 7 36533211
2020 A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature. Journal of the peripheral nervous system : JPNS 7 32639100
2020 Animal Models of CMT2A: State-of-art and Therapeutic Implications. Molecular neurobiology 7 32856204
2020 Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation. Journal of neurology 7 32897397
2017 Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child. Neurogenetics 7 28063088
2005 Essential kinesins: characterization of Caenorhabditis elegans KLP-15. Biochemistry 7 15850386
2023 CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy. Mitochondrion 6 38092249
2022 A case of juvenile-onset pheochromocytoma with KIF1B p.V1529M germline mutation. Endocrine journal 6 35046208
2019 The Kinesin-3 motor, KLP-4, mediates axonal organization and cholinergic signaling in Caenorhabditis elegans. FASEB bioAdvances 6 32123843
2000 C. elegans KLP-11/OSM-3/KAP-1: orthologs of the sea urchin kinesin-II, and mouse KIF3A/KIFB/KAP3 kinesin complexes. DNA research : an international journal for rapid publication of reports on genes and genomes 6 10819327
2018 A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family. Journal of the peripheral nervous system : JPNS 5 29341354
2018 A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family. Neuromuscular disorders : NMD 5 30642740
2023 O-GlcNAc Modification Alters the Chaperone Activity of HSP27 Charcot-Marie-Tooth Type 2 (CMT2) Variants in a Mutation-Selective Fashion. ACS chemical biology 4 37540114
2012 The MFN2 V705I Variant Is Not a Disease-Causing Mutation: A Segregation Analysis in a CMT2 Family. Journal of neurodegenerative diseases 4 26316991
2010 Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene. Clinical neurology and neurosurgery 4 20800346