2024

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
Hassani Nia F, Woike D, Bento I, Niebling S, Tibbe D, Schulz K, Hirnet D, Skiba M, Hönck H, Veith K, Günther C, Scholz T, Bierhals T, Driemeyer J, Bend R, Failla A, Lohr C, Alai M, Kreienkamp H
MOL PSYCHIATR. 2024;29(6):1683-1697.

The Shank/ProSAP N-Terminal (SPN) Domain of Shank3 Regulates Targeting to Postsynaptic Sites and Postsynaptic Signaling
Woike D, Tibbe D, Hassani Nia F, Martens V, Wang E, Barsukov I, Kreienkamp H
MOL NEUROBIOL. 2024;61(2):693-706.

2023

Biochemie hoch2: und Molekularbiologie 2. Auflage
Hampe W, Fluhrer R, Kouz K, Averbeck B, Dankwardt A, Duszenko M, Eberharter A, Harter C, Höppner S, Kindler S, Korber P, Kreienkamp H, Neumann S, Nielsen P, Salat D, Schling P, Unterleitner C, Wild-Bode C
2023.

2022

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp H, Wagner M, Weigand H, McConkie-Rossell A, McDonald M, Keren B, Mignot C, Gauthier J, Soucy J, Michaud J, Dumas M, Smith R, Löbel U, Hempel M, Kubisch C, Denecke J, Campeau P, Bain J, Lessel D
HUM GENET. 2022;141(2):257-272.

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain
Tibbe D, Ferle P, Krisp C, Nampoothiri S, Mirzaa G, Assaf M, Parikh S, Kutsche K, Kreienkamp H
LIFE SCI ALLIANCE. 2022;5(10):.

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Woike D, Wang E, Tibbe D, Hassani Nia F, Failla A, Kibæk M, Overgård T, Larsen M, Fagerberg C, Barsukov I, Kreienkamp H
SCI REP-UK. 2022;12(1):.

2021

Autism-associated SHANK3 missense point mutations impact conformational fluctuations and protein turnover at synapses
Bucher M, Niebling S, Han Y, Molodenskiy D, Hassani Nia F, Kreienkamp H, Svergun D, Kim E, Kostyukova A, Kreutz M, Mikhaylova M
ELIFE. 2021;10:.

The Golgi-Associated PDZ Domain Protein Gopc/PIST Is Required for Synaptic Targeting of mGluR5.
Klüssendorf M, Song I, Schau L, Morellini F, Dityatev A, Koliwer J, Kreienkamp H
MOL NEUROBIOL. 2021;58(11):5618–5634.

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Mannucci I, Dang N, Huber H, Murry J, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke P, Berland S, Bierhals T, Bilan F, Bindoff L, Braathen G, Busk Ø, Chenbhanich J, Denecke J, Escobar L, Estes C, Fleischer J, Groepper D, Haaxma C, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad U, Brenman L, Martinez-Agosto J, Might M, Miller D, Minks K, Moghaddam B, Nava C, Nelson S, Parant J, Prescott T, Rajabi F, Randrianaivo H, Reiter S, Schuurs-Hoeijmakers J, Shieh P, Slavotinek A, Smithson S, Stegmann A, Tomczak K, Tveten K, Wang J, Whitlock J, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo N, Kreienkamp H, Lessel D
GENOME MED. 2021;13(1):90.

Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization
Pan Y, Tibbe D, Harms F, Reißner C, Becker K, Dingmann B, Mirzaa G, Kattentidt-Mouravieva A, Shoukier M, Aggarwal S, Missler M, Kutsche K, Kreienkamp H
J NEUROCHEM. 2021;157(4):1331-1350.

SHANK3 conformation regulates direct actin binding and crosstalk with Rap1 signaling
Salomaa S, Miihkinen M, Kremneva E, Paatero I, Lilja J, Jacquemet G, Vuorio J, Antenucci L, Kogan K, Hassani Nia F, Hollos P, Isomursu A, Vattulainen I, Coffey E, Kreienkamp H, Lappalainen P, Ivaska J
CURR BIOL. 2021;31(22):4956-4970.e9.

Functional analysis of CASK transcript variants expressed in human brain.
Tibbe D, Pan Y, Reißner C, Harms F, Kreienkamp H
PLOS ONE. 2021;16(6):e0253223.

2020

Characterization of agonist-dependent somatostatin receptor subtype 2 trafficking in neuroendocrine cells
Alshafie W, Pan Y, Kreienkamp H, Stroh T
ENDOCRINE. 2020;69(3):655-669.

Truncating mutations in SHANK3 associated with global developmental delay interfere with nuclear β-catenin signaling
Hassani Nia F, Woike D, Kloth K, Kortüm F, Kreienkamp H
J NEUROCHEM. 2020;155(3):250-263.

Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminus
Hassani Nia F, Woike D, Martens V, Klüssendorf M, Hönck H, Harder S, Kreienkamp H
MOL AUTISM. 2020;11(1):85.

Germline AGO2 mutations impair RNA interference and human neurological development
Lessel D, Zeitler D, Reijnders M, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan E, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink H, Cham B, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias K, Evans C, Andrews P, Roscioli T, Brunner H, Chijiwa C, Lewis M, Jamra R, Dyment D, Boycott K, Stegmann A, Kubisch C, Tan E, Mirzaa G, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp H
NAT COMMUN. 2020;11(1):5797.

2019

Biochemie hoch2: und Molekularbiologie
Hampe W, Fluhrer R, Kouz K, Unterleitner C, Averbeck B, Dankwardt A, Duszenko M, Eberharter A, Harter C, Höppner S, Kindler S, Kreienkamp H, Korber P, Neumann S, Nielsen P, Salat D, Schling P, Wild-Bode C
2019.

Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice
Schob C, Morellini F, Ohana O, Bakota L, Hrynchak M, Brandt R, Brockmann M, Cichon N, Hartung H, Hanganu-Opatz I, Kraus V, Scharf S, Herrmans-Borgmeyer I, Schweizer M, Kuhl D, Wöhr M, Vörckel K, Calzada-Wack J, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Garner C, Kreienkamp H, Kindler S
TRANSL PSYCHIAT. 2019;9(1):7.

2018

International Union of Basic and Clinical Pharmacology. CV. Somatostatin Receptors: Structure, Function, Ligands, and New Nomenclature
Günther T, Tulipano G, Dournaud P, Bousquet C, Csaba Z, Kreienkamp H, Lupp A, Korbonits M, Castaño J, Wester H, Culler M, Melmed S, Schulz S
PHARMACOL REV. 2018;70(4):763-835.

Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic Patients
Hassani Nia F, Kreienkamp H
FRONT MOL NEUROSCI. 2018;11:268.

2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Lessel D, Schob C, Küry S, Reinders M, Harel T, Eldomery M, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann A, Gerkes E, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom T, Rosenfeld J, Yang Y, Posey J, Immken L, Oundjian N, Helbig K, Meeks N, Zegar K, Morton J, , Schieving J, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner H, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski J, Kreienkamp H
AM J HUM GENET. 2017;101(5):716-724.

SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras
Lilja J, Zacharchenko T, Georgiadou M, Jacquemet G, Franceschi N, Peuhu E, Hamidi H, Pouwels J, Martens V, Nia F, Beifuss M, Boeckers T, Kreienkamp H, Barsukov I, Ivaska J
NAT CELL BIOL. 2017;19(4):292-305.

2016

Severe learning deficits of IRSp53 mutant mice are caused by altered NMDA receptor dependent signal transduction
Bobsin K, Kreienkamp H
J NEUROCHEM. 2016;136(4):752-763.

Heterodimerization with the β1 subunit directs the α2 subunit of nitric oxide-sensitive guanylyl cyclase to calcium-insensitive cell-cell contacts in HEK293 cells: Interaction with Lin7a
Hochheiser J, Haase T, Busker M, Sömmer A, Kreienkamp H, Behrends S
BIOCHEM PHARMACOL. 2016;122:23-32.

2015

Sharpin Controls Osteogenic Differentiation of Mesenchymal Bone Marrow Cells
Jeschke A, Catala-Lehnen P, Sieber S, Bickert T, Schweizer M, Koehne T, Wintges K, Marshall R, Mautner A, Duchstein L, Otto B, Horst A, Amling M, Kreienkamp H, Schinke T
J IMMUNOL. 2015;195(8):3675-84.

The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization
Koliwer J, Park M, Bauch C, von Zastrow M, Kreienkamp H
J BIOL CHEM. 2015;290(10):6120-9.

2014

Subcellular sorting of the G-protein coupled mouse somatostatin receptor 5 by a network of PDZ-domain containing proteins
Bauch C, Koliwer J, Buck F, Hönck H, Kreienkamp H
PLOS ONE. 2014;9(2):e88529.

A non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA
Falley K, Ölschläger-Schütt J, Buck F, Richter D, Sala C, Bockmann J, Kindler S, Kreienkamp H
PLOS ONE. 2014;9(2):e88518.

2013

SHANK3 gene mutations associated with autism facilitate ligand binding to the Shank3 ankyrin repeat region
Mameza M, Dvoretskova E, Bamann M, Hönck H, Güler T, Boeckers T, Schoen M, Verpelli C, Sala C, Barsukov I, Dityatev A, Kreienkamp H
J BIOL CHEM. 2013;288(37):26697-708.

The RNA-binding protein MARTA2 regulates dendritic targeting of MAP2 mRNAs in rat neurons
Zivraj K, Rehbein M, Ölschläger-Schütt J, Schob C, Falley K, Buck F, Schweizer M, Schepis A, Kremmer E, Richter D, Kreienkamp H, Kindler S
J NEUROCHEM. 2013;124(5):670-84.

2012

Regional and subcellular distribution of the receptor-targeting protein PIST in the rat central nervous system.
Chen A, Gössling E, Witkowski L, Bhindi A, Bauch C, Roussy G, Sarret P, Kreienkamp H, Stroh T
J COMP NEUROL. 2012;520(5):889-913.

Dendritic mRNA targeting and translation.
Kindler S, Kreienkamp H
ADV EXP MED BIOL. 2012;970:285-305.

The role of the postsynaptic density in the pathology of the fragile X syndrome.
Kindler S, Kreienkamp H
Results Probl Cell Differ. 2012;54:61-80.

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.
Ramakers G, Wolfer D, Rosenberger G, Kuchenbecker K, Kreienkamp H, Prange-Kiel J, Rune G, Richter K, Langnaese K, Masneuf S, Bösl M, Fischer K, Krugers H, Lipp H, van Galen E, Kutsche K
HUM MOL GENET. 2012;21(2):268-286.

Sharpin contributes to TNFα dependent NFκB activation and anti-apoptotic signalling in hepatocytes.
Sieber S, Lange N, Kollmorgen G, Erhardt A, Quaas A, Gontarewicz A, Sass G, Tiegs G, Kreienkamp H
PLOS ONE. 2012;7(1):29993.

Association of shank 1A scaffolding protein with cone photoreceptor terminals in the mammalian retina.
Stella S, Vila A, Hung A, Rome M, Huynh U, Sheng M, Kreienkamp H, Brecha N
PLOS ONE. 2012;7(9):43463.

Letzte Aktualisierung aus dem FIS: 24.12.2024 - 23:36 Uhr