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Cellular Neurology Section - Division of Intramural Research


Donkervoort S, Dastgir J, Hu Y, Zein W, Marks H, Blackstone C, Bonnemann CG
Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia, Clin Genet, 2013 Full Text/Abstract

Landoure G, Zhu P-P, Lourenco CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangare M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez M, Speziani F, Durr A, Stevanin G, Biesecker LG for the NIH Intramural Sequencing Center, Accardi J, Landis DMD, Gahl WA, Traynor BJ, Marques W Jr, Zuchner S, Blackstone C, Fischbeck KH, Burnett BG
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12, Hum Mutat, 2013 Full Text/Abstract

Chang J, Lee S, Blackstone C
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation, Proc Natl Acad Sci USA, 2013, vol. 110, pp. 14954-14959. Full Text/Abstract

Chang J, Blackstone C
Rab10 joins the ER social network, Nat Cell Biol, 2013, vol. 15, pp. 135-136. Full Text/Abstract

Gray JJ, Zommer AE, Bouchard RJ, Duval N, Blackstone C, Linseman DA
N-terminal cleavage of the mitochondrial fusion GTPase OPA1 occurs via a caspase-independent mechanism in cerebellar granule neurons exposed to oxidative or nitrosative stress, Brain Res, 2013, vol. 1494, pp. 28-43. Full Text/Abstract

Anderson CA, Blackstone C
SUMO wrestling with Drp1 at mitochondria, EMBO J, 2013, vol. 32, pp. 1496-1498. Full Text/Abstract

Klemm RW, Norton JP, Cole RA, Li CS, Park SH, Crane MM, Li L, Jin D, Boye-Doe A, Liu TY, Shibata Y, Lu H, Rapoport TA, Farese RV Jr, Blackstone C, Guo Y, Mak HY
A conserved role for atlastin GTPases in regulating lipid droplet size, Cell Rep, 2013, vol. 3, pp. 1465-1475. Full Text/Abstract

Goyal U, Blackstone C
Untangling the web: mechanisms underlying ER network formation, Biochim Biophys Acta, 2013, vol. 1833, pp. 2492-2498. Full Text/Abstract


Blackstone C, Murphy CT
Cell biology of disease and aging: a two-way street, Mol Biol Cell, 2012, vol. 23, pp. 975. Full Text/Abstract

Lee Seongju, Chang J, Renvoise B, Tipirneni A, Yang S, Blackstone C
MITD1 is recruited to midbodies by ESCRT-III and participates in cytokinesis, Mol Biol Cell, 2012, vol. 23, pp. 4347-4361. Full Text/Abstract

Renvoise B, Stadler J, Singh R, Bakowska JC, Blackstone C
Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis, and BMP signaling, Hum Mol Genet, 2012, vol. 21, pp. 3604-3618. Full Text/Abstract

Pierson TM, Simeonov D, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC for the NISC Comparative Sequencing Program, Blackstone C, Tifft C, Boerkoel C, Gahl WA
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration, Eur J Hum Genet, 2012, vol. 20, pp. 476-479. Full Text/Abstract

Blackstone C
Cellular pathways of hereditary spastic paraplegia, Annu Rev Neurosci, 2012, vol. 35, pp. 25-47. Full Text/Abstract


Blackstone C
Infantile parkinsonism-dystonia due to dopamine transporter gene mutations: another genetic twist, Lancet Neurol, 2011, vol. 10, pp. 24-25. Full Text/Abstract

Blackstone C, O'Kane CJ, Reid E
Hereditary spastic paraplegias: membrane traffic and the motor pathway, Nat Rev Neurosci, 2011, vol. 12, pp. 31-42. Full Text/Abstract

Guelly C, Zhu P-P, Leonardis L, Papic L, Zidar J, Schabhuttl H, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Frohlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I, Am J Hum Genet, 2011, vol. 88, pp. 99-105. Full Text/Abstract

Blackstone C, Chang C-R
Mitochondria unite to survive, Nat Cell Biol, 2011, vol. 13, pp. 521-522. Full Text/Abstract

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC for the NISC Comparative Sequencing Program, Blakesley RW, Golas G, Kwan J, Sandler A, Fajardo KF, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases, PLoS Genet, 2011, vol. 7, pp. e1002325. Full Text/Abstract


Meilleur KG, Traore M, Sangare M, Britton A, Landoure G, Coulibaly S, Niare B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19, Neurogenetics, 2010, vol. 11, pp. 313-318. Full Text/Abstract

Park SH, Blackstone C
Further assembly required: construction and dynamics of the endoplasmic reticulum network, EMBO Rep, 2010, vol. 11, pp. 515-521. Full Text/Abstract

Park SH, Zhu P-P, Parker RL, Blackstone C
Spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network, J Clin Invest, 2010, vol. 120, pp. 1097-1110. Full Text/Abstract

Renvoise B, Blackstone C
Emerging themes of ER organization in the development and maintenance of axons, Curr Opin Neurobiol, 2010, vol. 20, pp. 531-537. Full Text/Abstract

Chang C-R, Blackstone C
Dynamic regulation of mitochondrial fission through modification of the dynamin-related protein Drp1, Ann NY Acad Sci, 2010, vol. 1201, pp. 34-39.

Soderblom C, Stadler J, Jupille H, Blackstone C, Shupliakov O, Hanna MC
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured corticlal neurons, Neurogenetics, 2010, vol. 11, pp. 369-378. Full Text/Abstract

Chang C-R, Manlandro CM, Arnoult D, Stadler J, Posey AE, Hill RB, Blackstone C
A lethal de novo mutation in the middle domain of the dynamin-related GTPase Drp1 inhibits higher-order assembly and mitochondrial division, J Biol Chem, 2010, vol. 285, pp. 32494-32503. Full Text/Abstract

Renvoise B, Parker RL, Yang D, Bakowska JC, Hurley JH, Blackstone C
SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis, Mol Biol Cell, 2010, vol. 21, pp. 3293-3303. Full Text/Abstract


Rismanchi R, Puertollano R, Blackstone C
STAM Adaptor Proteins Interact with COPII Complexes and Function in ER-to-Golgi Trafficking, Traffic, 2009, vol. 10, pp. 201-217. Full Text/Abstract

Loucks FA, Schroeder EK, Zommer AE, Hilger S, Kelsey NA, Bouchard RJ, Blackstone C, Brewster JL, Linseman DA
Caspases indirectly regulate cleavage of the mitochondrial fusion GTPase OPA1 in neurons undergoing apoptosis, Brain Res, 2009, vol. 1250, pp. 63-74. Full Text/Abstract

Hanna M, Blackstone C
Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1, Neurogenetics, 2009, vol. 10, pp. 217-228. Full Text/Abstract

Blackstone C
Infantile parkinsonism-dystonia: a dopamine 'transportopathy', J Clin Invest, 2009, vol. 119, pp. 1455-1458. Full Text/Abstract

Figueroa-Romero C, Iniguez-Lluhi JA, Stadler J, Chang C-R, Arnoult D, Keller PJ, Hong Y, Blackstone C, Feldman EL
SUMOylation of the mitochondrial fission protein Drp1 occurs at mutliple non-consensus sites and is linked to its activity cycle, FASEB J, 2009, vol. 23, pp. 3917-3927. Full Text/Abstract

Hu J, Shibata Y, Zhu P-P, Voss C, Rismanchi N, Prinz WA, Rapoport TA, Blackstone C
A class of dynamin-like GTPases involved in the generation of the tubular ER network, Cell, 2009, vol. 138, pp. 549-561. Full Text/Abstract


Cereghetti GM, Stangherlin A, Martins de Brito O, Chang CR, Blackstone C, Bernardi P, Scorrano L
Dephosphorylation by calcineurin regulates translocation of Drp1 to mitochondria, Proc Natl Acad Sci USA, 2008, vol. 105, pp. 15803-15808. Full Text/Abstract

Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C
Loss of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?, Arch Neurol, 2008, vol. 65, pp. 520-524. Full Text/Abstract

Yang D, Rismanchi N, Renvoise B, Lippincott-Schwartz J, Blackstone C, Hurley JH
Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B, Nat Struct Mol Biol, 2008, vol. 15, pp. 1278-1286. Full Text/Abstract

Guillery O, Malka F, Landes T, Guillou E, Blackstone C, Lombes A, Belenguer P, Arnoult D, Rojo M
Metalloprotease-mediated OPA1 processing is modulated by the mitochondrial membrane potential, Biol Cell, 2008, vol. 100, pp. 315-325. Full Text/Abstract

Rismanchi N, Soderblom C, Stadler J, Zhu P-P, Blackstone C
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis, Hum Molec Genet, 2008, vol. 17, pp. 1591-1604. Full Text/Abstract


Chang C-R, Blackstone C
Drp1 phosphorylation and mitochondrial regulation, EMBO Rep, 2007, vol. 8, pp. 1088-1089. Full Text/Abstract

Chang C-R, Blackstone C
Cyclic-AMP-dependent phosphorylation of Drp1 regulates its GTPase activity and mitochondrial morphology, J Biol Chem, 2007, vol. 282, pp. 21583-21587. Full Text/Abstract

Rismanchi N, Blackstone C
Mitochondrial function and dysfunction in the nervous system, Molecular Neurology (S. Waxman, ed.), 2007, pp. 29-41.

Meijer IA, Dion P, Laurent S, Dupre N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu P-P, Soderblom C, Stadler J, Blackstone C, Rouleau GA
Characterization of a novel SPG3A deletion in a French-Canadian family, Ann Neurol, 2007, vol. 61, pp. 599-603. Full Text/Abstract

Papapetropoulos S, Friedman J, Blackstone C, Kleiner G, Bowen BC, Singer C
A progressive, fatal dystonia-parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy, Mov Disord, 2007, vol. 22, pp. 1664-1666. Full Text/Abstract

Bakowska J, Jupille H, Fatheddin P, Puertollano R, Blackstone C
Troyer syndrome protein spartin is mono-ubiquitinated and functions in EGF receptor trafficking, Mol Biol Cell, 2007, vol. 18, pp. 1683-1692. Full Text/Abstract


Soderblom C, Blackstone C
Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias, Pharmacol Ther, 2006, vol. 109, pp. 42-56. Full Text/Abstract

Blindauer K and the Parkinson Study Group (C Blackstone)
A randomized control trial of etilevodopa in Parkinson's disease patients with motor fluctuations, Arch Neurol, 2006, vol. 63, pp. 210-216. Full Text/Abstract

Zhu P-P, Soderblom C, Tao-Cheng J-H, Stadler J, Blackstone C
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development, Hum Mol Genet, 2006, vol. 15, pp. 1343-1353. Full Text/Abstract


Bakowska JC, Jenkins R, Pendleton J, Blackstone C
The Troyer syndrome (SPG20) protein spartin interacts with Eps15, Biochem Biophys Res Commun, 2005, vol. 334, pp. 1042-1048. Full Text/Abstract

Arnoult D, Grodet A, Lee Y-J, Estaquier J, Blackstone C
Release of OPA1 during apoptosis participates in the rapid and complete release of cytochrome c and subsequent mitochondrial fragmentation, J Biol Chem, 2005, vol. 280, pp. 35742-35750. Full Text/Abstract

Arnoult D, Rismanchi N, Grodet A, Roberts RG, Seeburg DP, Estaquier J, Sheng M, Blackstone C
Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death, Curr Biol, 2005, vol. 15, pp. 2112-2118. Full Text/Abstract


Zhu P-P, Patterson A, Stadler J, Seeburg DP, Sheng M, Blackstone C
Intra- and intermolecular domain interactions of the C-terminal GTPase effector domain of the multimeric dynamin-like GTPase Drp1, J Biol Chem, 2004, vol. 279, pp. 35967-35974. Full Text/Abstract


Miller DW, Ahmad R, Hague S, Baptista MJ, Canet-Aviles R, McLendon C, Carter DM, Zhu P-P, Stadler J, Chandran J, Klinefelter GR, Blackstone C, Cookson MR
L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteosome system, J Biol Chem, 2003, vol. 278, pp. 36588-36595. Full Text/Abstract

Blackstone C, Roberts RG, Seeburg DP, Sheng M
Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transducing adaptor molecule STAM1, Biochem Biophys Res Comm, 2003, vol. 305, pp. 345-352. Full Text/Abstract

Zhu P-P, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C
Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin, J Biol Chem, 2003, vol. 278, pp. 49063-49071. Full Text/Abstract


Blackstone C, Sheng M
Postsynaptic calcium signaling microdomains in neurons, Front Biosci, 2002, vol. 7, pp. d872-d885.


Blackstone C, Sheng M
Protein targeting and calcium signaling microdomains in neuronal cells, Cell Calcium, 1999, vol. 26, pp. 181-192. Full Text/Abstract


Martin LJ, Furuta A, Blackstone CD
AMPA receptor protein in developing rat brain: glutamate receptor-1 expression and localization change at regional, cellular, and subcellular levels with maturation, Neuroscience, 1998, vol. 83, pp. 917-928. Full Text/Abstract


Wright DD, Blackstone CD, Huganir RL, Ryugo DK
Immunocytochemical localization of the mGluR1 metabotropic glutamate receptor in the dorsal cochlear nucleus, J Comp Neurol, 1996, vol. 364, pp. 729-745.


Ginsberg SD, Price DL, Blackstone CD, Huganir RL, Martin LJ
Non-NMDA glutamate receptors are present throughout the primate hypothalamus, J Comp Neurol, 1995, vol. 353, pp. 539-552.

Blackstone CD, Huganir RL
Molecular structure of glutamate receptor channels, In: TW Stone, ed. CNS Neurotransmitters and Neuromodulators,, 1995, vol. Vol. 1, pp. 53-67.

Prince HK, Conn PJ, Blackstone CD, Huganir RL, Levey AI
Down-regulation of AMPA receptor subunit GluR2 in amygdaloid kindling, J Neurochem, 1995, vol. 64, pp. 462-465.

Ginsberg SD, Price DL, Blackstone CD, Huganir RL, Martin LJ
The AMPA glutamate receptor GluR3 is enriched in oxytocinergic magnocellular neurons and is localized at synapses, Neuroscience, 1995, vol. 65, pp. 563-575.

Peng Y-W, Blackstone CD, Huganir RL, Yau K-W
Distribution of glutamate receptor subtypes in the vertebrate retina, Neuroscience, 1995, vol. 66, pp. 483-497.


Raymond LA, Tingley WG, Blackstone CD, Roche KW, Huganir RL
Glutamate receptor modulation by protein phosphorylation, J Physiol (Paris), 1994, vol. 88, pp. 181-192.

Craig AM, Blackstone CD, Huganir RL, Banker G
Selective clustering of glutamate and gamma-aminobutyric acid receptors opposite terminals releasing the corresponding neurotransmitters, Proc Natl Acad Sci USA, 1994, vol. 91, pp. 12373-12377.

Paschen W, Blackstone CD, Huganir RL, Ross CA
Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment, Genomics, 1994, vol. 20, pp. 435-440.

Roche KW, Raymond LA, Blackstone C, Huganir RL
Transmembrane topology of the glutamate receptor subunit GluR6, J Biol Chem, 1994, vol. 269, pp. 11679-11682.

Blackstone C, Murphy TH, Moss SJ, Baraban JM, Huganir RL
Cyclic AMP and synaptic activity-dependent phosphorylation of AMPA-preferring glutamate receptors, J Neurosci, 1994, vol. 14, pp. 7585-7593.

Hyman BT, Penney JB Jr, Blackstone CD, Young AB
Localization of non-N-methyl-D-aspartate glutamate receptors in normal and Alzheimer hippocampal formation, Ann Neurol, 1994, vol. 35, pp. 31-37.

Krishek BJ, Xie X, Blackstone C, Huganir RL, Moss SJ, Smart TG
Regulation of GABA receptor function by protein kinase C phosphorylation, Neuron, 1994, vol. 12, pp. 1081-1095.

van den Pol A, Kogelman L, Ghosh P, Liljelund P, Blackstone C
Developmental regulation of the hypothalamic metabotropic glutamate receptor mGluR1, J Neurosci, 1994, vol. 14, pp. 3816-3834.


Moss SJ, Blackstone CD, Huganir RL
Phosphorylation of recombinant non-NMDA glutamate receptors on serine and tyrosine residues, Neurochem Res, 1993, vol. 18, pp. 105-110.

Raymond LA, Blackstone CD, Huganir RL
Phosphorylation and modulation of recombinant GluR6 glutamate receptors by cAMP-dependent protein kinase, Nature, 1993, vol. 361, pp. 637-641.

Raymond LA, Blackstone CD, Huganir RL
Phosphorylation of amino acid neurotransmitter receptors in synaptic plasticity, Trends Neurosci, 1993, vol. 16, pp. 147-153.

Martin LJ, Blackstone CD, Levey AI, Huganir RL, Price DL
AMPA glutamate receptor subunits are differentially distributed in rat brain, Neuroscience, 1993, vol. 53, pp. 327-358.

Martin LJ, Blackstone CD, Huganir RL, Price DL
The striatal mosaic in primates: striosomes and matrix are differentially enriched in ionotropic glutamate receptor subunits., J Neurosci, 1993, vol. 13, pp. 782-792.

Martin LJ, Blackstone CD, Levey AI, Huganir RL, Price DL
Cellular localizations of AMPA glutamate receptors within the basal forebrain magnocellular complex of rat and monkey, J Neurosci, 1993, vol. 13, pp. 2249-2263.

Craig AM, Blackstone CD, Huganir RL, Banker G
The distribution of glutamate receptors in cultured rat hippocampal neurons: postsynaptic clustering of AMPA-selective subunits, Neuron, 1993, vol. 10, pp. 1055-1068.

Milani D, Candeo P, Favaron M, Blackstone CD, Manev H
A subpopulation of cerebellar granule cells in culture expresses a functional mGluR1 metabotropic glutamate receptor: effect of depolarizing growing conditions, Receptors and Channels, 1993, vol. 1, pp. 243-250.


Swope SL, Moss SJ, Blackstone CD, Huganir RL
Phosphorylation of ligand-gated ion channels: a possible mode of synaptic plasticity, FASEB J, 1992, vol. 6, pp. 2514-2523.

Blackstone CD, Raymond L, Moss SJ, Huganir RL
Regulation of non-NMDA gluatmate receptors by protein phosphorylation, In: Simon RP, ed. Fidia Research Foundation Symposium Series: Excitatory Amino Acids,, 1992, vol. Vol. 9, pp. 15-20.

Blackstone CD, Moss SJ, Martin LJ, Levey AI, Price DL, Huganir RL
Biochemical characterization and localization of a non-N-methyl-D-aspartate glutamate receptor in rat brain, J Neurochem, 1992, vol. 58, pp. 1118-1126.

Blackstone CD, Levey AI, Martin LJ, Price DL, Huganir RL
Immunological detection of glutamate receptor sybtypes in human central nervous system, Ann Neurol, 1992, vol. 31, pp. 680-683.

Martin LJ, Blackstone CD, Huganir RL, Price DL
Cellular localization of a phosphoinositide-linked metabotropic glutamate receptor in rat brain, Neuron, 1992, vol. 9, pp. 259-270.

Blackstone CD, Huganir RL
Glutamate receptor phosphorylation, Neuroscience Facts, 1992, vol. 3, pp. 2-3.

Moss SJ, Smart TG, Blackstone CD, Huganir RL
Functional modulation of GABA receptors by cAMP-dependent protein phosphorylation, Science, 1992, vol. 257, pp. 661-665.


Blackstone CD, Supattapone S, Snyder SH
Phosphoinositide-linked glutamate receptors mediate cerebellar parallel fiber-Purkinje cell synaptic transmission, Proc Natl Acad Sci USA, 1989, vol. 86, pp. 4316-4320.


Blackstone CD, Seino S, Takeuchi T, Yamada T, Steiner DF
Novel organization and processing of the guinea pig pancreatic polypeptide precursor, J Biol Chem, 1988, vol. 263, pp. 2911-2916.

Seino S, Blackstone CD, Chan SJ, Whittaker J, Bell GI, Steiner DF
Appalachian spring: variations on ancient gastro-entero-pancreatic themes in New World mammals, Horm Metabol Res, 1988, vol. 20, pp. 430-435.

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