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INTERNATIONAL RESEARCH TRAINING GROUP 8th Joint Symposium Weiskirchen September 2-4, 2019 Compendium Monday, 09/02/19 Tuesday, 09/03/19 Wednesday, 09/04/19 Arrival 8:00 Breakfast 8:00 Breakfast Registration Welcome 9:00 G. Khandpur 9:00 M. Schöppe 10:00 A. Khan 9:20 J. Oestreicher 9:20 M. Saurette 10:15 J. Bak 9:40 E. Zöller 9:40 C. Martins Rodrigues 10:30 A. Russo 10:00 J. Laborenz 10:00 K. Badior 10:45 Coffee break 10:20 Coffee break 10:20 Coffee break 11:00 M. Sicking 10:45 T. Bentrcia 10:45 K. Ravichandran 11:15 R. Brassard 11:00 M. Beggs 11:05 P. Schepsky 11:30 N. Yadao 11:15 X. Liu 11:25 Concluding remarks 11:50 F. Wollweber 11:35 Poster flash talks 11:35 PI & Trainee Meetings 12:10 Lunch 12:30 Lunch 12:00 Lunch 13:30 Hike Visit of the “Saarschleife” 16:00 Poster Session End of Meeting 13:15 & - & 22:00 Guidance Committee Saarburg 18:00 Meetings Departure “Saarweinfest” 19:00 Barbecue 10 min talk & 5 min discussion 15 min talk & 5 min discussion Poster flash talks max. 3 min 2 Day One (Monday, September 2, 2019) Arrival and Registration until 9.45 am 09:55 -10 :00 Ekkehard Neuhaus Welcome Session 1 (Chair: Gurleen Khandpur) 10:00-10:15 Azkia Khan Characterization of the putative vacuolar sugar transporter AtERDL4 10:15-10:30 Jessi Bak Characterizing the “regulin” family of SERCA- regulatory peptides 10:30-10:45 Antonietta Russo Translocon-associated protein (TRAP) complex and co-translational protein transport 10:45 – 11:00 Coffee break Session 2 (Chair: Duc Phuong Vu) 11:00-11:15 Mark Sicking Malfunctions of kidney disease associated Sec61 α mutations 11:15-11:30 Raelynn Brassard Understanding PARL-dependent cleavage of PINK1 in mitochondrial health and Parkinson's disease 11:30-11:50 Nilam Yadao Differential sorting of mitochondrial preproteins via the TIM23 machinery 11:50-12:10 Florian Wollweber Regulation of MICOS activity during mitochondrial cristae remodelling 12:10 – 13:00 Lunch 13:15 – 22:00 Visit of the Saarschleife & Saarburg (“Saarweinfest”) Day Two (Tuesday, September 3, 2019) 08:00 – 09:00 Breakfast Session 3 (Chair: Jonas Höring) 09:00-09:20 Gurleen Kaur Khandpur Changes in amino acid availability severely impacts yeast cell growth and redox homeostasis 09:20-09:40 Julian Oestreicher Identification of Opt3 as a putative endoplasmic reticulum-localized glutathione disulphide exporter 09:40-10:00 Eva Zöller Mix23 – a novel yeast protein in the intermembrane space of mitochondria 10:00-10:20 Janina Laborenz The ER-protein EMA19: a role in mitochondrial import? 3 10:20 – 10:45 Coffee break Session 4 (Chair: Leo Bellin) 10:45-11:00 Teqiyya Bentrcia A novel modulator of TRPC6 channel function 11:00-11:15 Megan Beggs Increased calcium permeability across small intestine in early life conferred by claudin-2 11:15-11:30 Xiong Liu Molecular mechanism of TRPP3 regulation by calmodulin 11:30 – 11:35 Short break Poster flash talks (Chair: Cristina Martins Rodrigues) 11:35-11:38 Leo Bellin Structural and functional insights into the ATCase of Arabidopsis thaliana 11:38-11:41 Wassilina Bugaeva Physiological analysis of the plastid fatty acid export proteins in Arabidopsis thaliana 11:41-11:44 Damayante Das The novel role of TMEM33 as a regulator of voltage gated Potassium channels 11:44-11:47 Daniel Fajonyomi Unique gating properties of Kv1.2 glycosylation deficient mutants 11:47-11:50 Jonas Höring Micellization thermodynamics of fluorinated and hydrogenated surfactants 11:50-11:53 Annalisa John Identification of chloroplast envelope proteins with critical importance for cold acclimation of Arabidopsis 11:53-11:56 Xiaobing Li Analysis of intracellular trafficking & localization of the human kidney anion exchanger 1 (kAE1) in yeast 11:56-11:59 Hasib Sarder Dissecting intracellular trafficking and mis- trafficking of human kidney AE1 in yeast and mammalian cells 11:59-12:02 Andrea Tirincsi Transmembrane protein 109 (TMEM109), a putative hsnd3 protein 12:02-12:05 Pratiwi Prananingrum The warm and high light stress; insight on a plastidic sugar transporter 12:05-12:08 Duc Phuong Vu Vacuolar sucrose mobilization is critical for the development of Arabidopsis thaliana 12:08-12:11 Janet Zhou The influence of selenium on arsenic hepatobiliary transport 12:30 – 13:30 Lunch 13:30 – 16:00 Hike / Time at free disposal (e.g. swimming, sports) 4 16:00 – 18:00 Poster Session (including coffee break) Structural and functional insights into the ATCase of Arabidopsis 1 Leo Bellin thaliana Physiological analysis of the plastid fatty acid export proteins in 2 Wassilina Bugaeva Arabidopsis thaliana The novel role of TMEM33 as a regulator of voltage-gated potassium 3 Damayantee Das channels 4 Daniel Fajonyomi Unique gating properties of glycosylation-deficient Kv1.2 channels Micellization thermodynamics of fluorinated and hydrogenated 5 Jonas Höring surfactants Identification of chloroplast envelope proteins with critical importance 6 Annalisa John for cold acclimation of Arabidopsis Dissecting intracellular trafficking and mis-trafficking of human kidney 7 Hasib Sarder AE1 in yeast and mammalian cells Analysis of intracellular trafficking & localization of the human kidney 8 Xiaobing Li anion exchanger 1 (kAE1) in yeast 9 Andrea Tirincsi Transmembrane protein 109 (TMEM109), a putative hsnd3 protein The warm and high light stress; insight on a plastidic sugar 10 Pratiwi Prananingrum transporter Vacuolar sucrose mobilization is critical for the development of 11 Duc Phuong Vu Arabidopsis thaliana 12 Janet Zhou The influence of selenium on arsenic hepatobiliary transport In order to allow guidance committee meetings at the posters and that the presenting trainees can visit the posters of their colleagues, the posters remain hanging the whole evening. 18:00 – 19:30 Guidance Committee Meetings Free choice of meeting places, e.g. hotel lobby, terrace, conference room, at the posters. 18:00 – H. Sarder J. Laborenz F. Wollweber T. Bentrcia New trainees/ 18:20 M. Schmitt J. Herrmann M. van der Laan V. Flockerzi trainees without E. Neuhaus S. Lang M. Hoth T. Alexander guidance E. Cordat N. Touret J. Casey committees 18:20 – A. Russo G. Khandpur W. Bugaeva K. Ravichandran L. Bellin 18:40 R. Zimmermann B. Morgan E. Neuhaus J. Rettig (T. Möhlmann) M. Hoth M. van der Laan K. Philippar V. Flockerzi J. Höring X-Z. Chen N. Touret J. Casey ? (S. Keller) A. John 18:40 – C. Martins P. Schepsky N. Yadao M. Schöppe (E. Neuhaus ) 19:00 Rodrigues J. Engel M. van der Laan B. Niemeyer J. Oestreicher E. Neuhaus V. Flockerzi J. Herrmann S. Lang (B. Morgan) K. Philippar (H. Kurata) J. Casey T. Alexander A. Tirincsi X.-Z. Chen (S. Lang) 19:00 - E. Zöller D. Vu X. Li M. Sicking 19:20 J. Herrmann E. Neuhaus M. Schmitt (S. Lang) M. van der Laan T. Möhlmann B. Morgan T. Alexander J. Lemieux E. Cordat 19:00 Barbecue at the “Eventhütte” 5 Day Three (Wednesday, September 4, 2019) 08:00 – 09:00 Breakfast Session 5 (Chair: Janina Laborenz) 09:00-09:20 Mona Schöppe Characterization of a novel splice variant of the stromal interaction molecule1 (STIM1) 09:20-09:40 Matthew Saurette Phosphorus source and intestinal absorption: inorganic phosphate is absorbed by the paracellular pathway 09:40-10:00 Cristina Martins Rodrigues To BEet or not to BEet. A short story about sugar beet transporters and their impact on cold acclimation 10:00-10:20 Katie Badior Investigation of RBC aging 10:20 – 10:45 Coffee break Session 6 (Chair: Xiaobing Li) 10:45-11:05 Keerthana Ravichandran Characterization of flower containing vesicles in mouse cytotoxic T lymphocytes 11:05-11:25 Pauline Schepsky Slack (Slo2.2) K+ channels and the tight junction protein Claudin-12 in the cochlea 11:25-11:35 Barbara Niemeyer & Concluding remarks Joe Casey 11:35 – 12:00 Trainee & PI Meeting 12:00 - 13:00 Lunch / End of Meeting 6 Abstracts in chronological order 7 Characterization of the putative vacuolar sugar transporter, a homolog of At ERDL6 Azkia Khan , Patrick Klemens & H. Ekkehard Neuhaus Department of Plant Physiology, University of Kaiserslautern, Germany In plants, the central vacuole is the largest organelle and essential for plant growth. Within a cell, the vacuole can serve as temporary storage for many metabolites and signaling compounds. Both the availability of sugars and the accumulation of macro- and micronutrients ensure proper plant growth. Sugars in plants provide energy for metabolic processes as well as act as precursors in the synthesis of starch and amino acids. The movement of sugar to and from the vacuole rely on numerous vacuolar transporters. Vacuolar sugar transport is mediated by sucrose transporter family, the monosaccharide transporters (MST) and members of a family called SWEET. Early response to dehydration (ERD) 6–like1 (ESL1), is a member of the ERD-6-like clade, is a vacuolar protein and a member of MST family. Other members of this clade are also targeted to the tonoplast. The current study is on a homolog of AtERDL6, which we have identified as a vacuolar located sugar carrier, induced by cold, drought and salt stress. GUS promoter analysis revealed its expression mainly in the roots and pollens. Overexpressor and knockout plants also exhibit variation in sugar accumulation under different stress conditions. Characterizing the “regulin” family of SERCA-regulatory peptides Jessi Bak & Howard Young Department of Biochemistry, University of Alberta, Edmonton, Canada Calcium signalling is important for a multitude of physiological processes like skeletal and cardiac muscle function, neurotransmitter release, and the cell cycle. Because of this central role, it is tightly regulated at the intracellular level through the sarco(endo)plasmic calcium ATPase, or SERCA. SERCA is a P-type ATPase that utilizes ATP to pump two calcium ions across the membrane of the sarcoplasmic or endoplasmic reticulum membrane into the lumen of the organelle for storage.
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  • Relevance of Electrolytic Balance in Channelopathies

    Relevance of Electrolytic Balance in Channelopathies

    SCUOLA DI DOTTORATO UNIVERSITÀ DEGLI STUDI DI MILANO-BICOCCA University of Milano-Bicocca School of Medicine and Surgery PhD Program in Translational and Molecular Medicine XXIX PhD course Relevance of electrolytic balance in channelopathies. Dr. Anna BINDA Matr. 708721 Tutor: Dr.ssa Ilaria RIVOLTA Coordinator: prof. Andrea BIONDI Academic year 2015-2016 2 Table of contents Chapter 1: introduction Channelopathies…………………………..…………………….….p. 7 Skeletal muscle channelopathies………………………….….…...p. 10 Neuromuscular junction channelopathies………………….……..p. 16 Neurological channelopathies……………………………….……p. 17 Cardiac channelopathies………………………………………..…p. 26 Channelopathies of non-excitable tissue………………………….p. 35 Scope of the thesis…………………………………………..…….p. 44 References………………………………………………….……..p. 45 Chapter 2: SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype…………………………..………..p. 51 Chapter 3: Functional characterization of a novel KCNJ2 mutation identified in an Autistic proband.…………………....p. 79 Chapter 4: A Novel Copy Number Variant of GSTM3 in Patients with Brugada Syndrome……………………………...………..p. 105 Chapter 5: Functional characterization of a mutation in KCNT1 gene related to non-familial Brugada Syndrome…………….p. 143 Chapter 6: summary, conclusions and future perspectives….p.175 3 4 Chapter 1: introduction 5 6 Channelopathies. The term “electrolyte” defines every substance that dissociates into ions in an aqueous solution and acquires the capacity to conduct electricity. Electrolytes have a central role in cellular physiology, in particular their correct balance between the intracellular compartment and the extracellular environment regulates physiological functions of both excitable and non-excitable cells, acting on cellular excitability, muscle contraction, neurotransmission and hormone release, signal transduction, ion and water homeostasis [1]. The most important electrolytes in the human organism are sodium, potassium, magnesium, phosphate, calcium and chloride.
  • Identification and Characterization of TMEM33 As a Reticulon-Binding Protein

    Identification and Characterization of TMEM33 As a Reticulon-Binding Protein

    Kobe J. Med. Sci., Vol. 60, No. 3, pp. E57-E65, 2014 Identification and Characterization of TMEM33 as a Reticulon-binding Protein TAKESHI URADE1,2, YASUNORI YAMAMOTO1, XIA ZHANG1, YONSON KU2, and TOSHIAKI SAKISAKA*1 1Division of Membrane Dynamics, Department of Physiology and Cell Biology, 2Division of Hepato-biliary-pancreatic surgery, Department of Surgery, Kobe University Graduate School of Medicine, Kobe 650-0017 Japan Received 16 July, 2014/ Accepted 31 July, 2014 Key words: TMEM33, Reticulon, ER tubules ABSTRACT Endoplasmic reticulum (ER) is an organelle that has an elaborate and continuous membrane system composed of sheet-like cisternae and a network of interconnected tubules. The ER tubules are shaped by reticulons, a conserved ER membrane protein family. However, how the membrane-shaping activity is regulated remains to be elucidated. To understand the mode of action of reticulons, we isolated TMEM33, a conserved protein harboring three transmembrane domains, as a reticulon 4C-binding protein by affinity chromatography. In addition to reticulon 4C, TMEM33 binds to reticulon 1A, -2B, -3C and a reticulon homology domain-containing protein Arl6IP1. Exogenously expressed TMEM33 localizes at both the ER membrane and the nuclear envelope. Exogenously expressed TMEM33 co-localizes with exogenously expressed reticulon 4C well at the ER sheets and partially at the ER tubules. Exogenously expressed TMEM33 suppresses the exogenously expressed reticulon 4C-induced tubulation of ER. These results suggest that TMEM33 has a potency to suppress the membrane-shaping activity of reticulons, thereby regulating the tubular structure of ER. INTRODUCTION The ER (endoplasmic reticulum) is a continuous membrane system extended from nuclear envelope and composed of interconnected sheets and tubules [11,20,21,25,28].