Home CSTB
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(Human) GRCh37 - chr21:45192393..45196326 (3.93 kb) View in Genome Browser
(Mouse) NCBIM37 - chr10:77888415..77890367 (1.95 kb) View in Genome Browser
(Rat) RGSC3.4 - chr20:10576664..10578706 (24 kb) View in Genome Browser
HaemAtlas Expression Table for CSTB:|
Expression Legend
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Cell Types Showing Expression: Available
Users should be aware that the scale represents a rank within an experiment rather than a normalized expression signal.
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| ductal cells | exocrine pancreas | pancreatic islets | primary beta cells | Pancreatic Islets MPSS | beta cell line | pancreatic islets | whole pancreas | alpha cell | beta cell line | pancreatic islets | primary beta cells | whole pancreas |
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The Beta Cell Gene Atlas is a collection of almost all available public microarray data generated with pancreatic beta cells and related cell lines and types. The expression data comes from 131 array analyses derived from 28 experiments (open details in a new window). The basal (untreated cell) expression signal intensity values in each array were converted to ranks within the experiments; the highest value was used for genes represented by more than one probe. The rank values of genes in a given cell type were averaged with other calculated values from experiments performed with the same cell type. The rank transformation of the expression values enable comparison of gene expression across different organisms and tissues.
A red border around a cell indicates greater certainty in the data; specifically, the gene has >0.95 probability of being expressed in the tissue.
Tissues Showing Expression: Available
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| Signal intensity values were converted to ranks within the experiments. For genes represented by more than one probeset, we averaged the intensity signals for each probeset across all tissues and chose the probeset with the highest average value. The rank transformation of the expression values enables comparison of gene expression across different organisms and tissues. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Interactions Table for CSTB:The CSTB interactions are shown below. Each row lists the two interactors, the sources which document this as an interaction, a classification of the interaction as empirical or predicted, and Pubmed IDs (if any) for the interaction.
The table of interactions is downloadable as a text file. Please note that the text file will not include data from HPRD due to restrictions imposed by the HPRD funding sources.
| Interactor | Interactor | Sources | Classification | Pubmed IDs |
| CSTB | CFTR | IntAct | empirical | 17110338 |
| CSTB | GABARAP | IntAct | empirical | 20562859 |
| CSTB | LIN54 | IntAct | empirical | 17531812 |
| CSTB | CTSB | HPRD | empirical | 11514663 |
| CSTB | CTSD | HPRD | empirical | 3261170 |
| CSTB | CTSH | HPRD | empirical | 11514663 |
| CSTB | CTSL1 | HPRD | empirical | 11514663 |
| CSTB | EPB41 | IntAct | empirical | 17353931 |
| CSTB | GABARAPL1 | IntAct | empirical | 20562859 |
| CSTB | HLA-B | IntAct | empirical | 17353931 |
| CSTB | PINX1 | IntAct | empirical | 17353931 |
| CSTB | VHL | IntAct | empirical | 17353931 |
| CSTB | MAP1LC3A | IntAct | empirical | 20562859 |
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Type 1 Diabetes Publications: 1
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Molecular cloning and sequencing of cDNA for rat cystatin beta.
Sato N, Ishidoh K, Uchiyama Y, Kominami E
Nucleic Acids Res. 1990
PubMed ID: 2251135
Publications: 101
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Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1.
Tegelberg S, Kopra O, Joensuu T, Cooper JD, Lehesjoki AE
J Neuropathol Exp Neurol. 2012
PubMed ID: 22157618
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The cross-road between the mechanisms of protein folding and aggregation; study of human stefin B and its H75W mutant.
Smajlović A, Berbić S, Žerovnik E
Biochem Biophys Res Commun. 2011
PubMed ID: 22033403
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A directed protein interaction network for investigating intracellular signal transduction.
Vinayagam A, Stelzl U, Foulle R, Plassmann S, Zenkner M, Timm J, Assmus HE, Andrade-Navarro MA, Wanker EE
Sci Signal. 2011
PubMed ID: 21900206
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A conditional knockout resource for the genome-wide study of mouse gene function.
Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A
Nature. 2011
PubMed ID: 21677750
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The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome.
Duchon A, Pothion S, Brault V, Sharp AJ, Tybulewicz VL, Fisher EM, Herault Y
Behav Brain Res. 2011
PubMed ID: 21047530
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Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene.
Koskenkorva P, Hyppönen J, Aikiä M, Mervaala E, Kiviranta T, Eriksson K, Lehesjoki AE, Vanninen R, Kälviäinen R
Neurodegener Dis. 2011
PubMed ID: 21757863
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Initial characterization of the human central proteome.
Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Bürckstümmer T, Bennett KL, Superti-Furga G, Colinge J
BMC Syst Biol. 2011
PubMed ID: 21269460
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A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Hernandez AM, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Brockmeyer M, Dettmer S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam M, Semple CA, Gyenesei A, Mundlos S, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez S, Baldock RA, Eichele G, Ballabio A
PLoS Biol. 2011
PubMed ID: 21267068
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Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy.
Kaur G, Mohan P, Pawlik M, DeRosa S, Fajiculay J, Che S, Grubb A, Ginsberg SD, Nixon RA, Levy E
Am J Pathol. 2010
PubMed ID: 20889561
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Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators
Diabetes Care. 2010
PubMed ID: 20628086
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Stefin B interacts with histones and cathepsin L in the nucleus.
Ceru S, Konjar S, Maher K, Repnik U, Krizaj I, Bencina M, Renko M, Nepveu A, Zerovnik E, Turk B, Kopitar-Jerala N
J Biol Chem. 2010
PubMed ID: 20075068
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Interaction between oligomers of stefin B and amyloid-beta in vitro and in cells.
Skerget K, Taler-Vercic A, Bavdek A, Hodnik V, Ceru S, Tusek-Znidaric M, Kumm T, Pitsi D, Pompe-Novak M, Palumaa P, Soriano S, Kopitar-Jerala N, Turk V, Anderluh G, Zerovnik E
J Biol Chem. 2010
PubMed ID: 19955183
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Intracellular aggregation of human stefin B: confocal and electron microscopy study.
Ceru S, Layfield R, Zavasnik-Bergant T, Repnik U, Kopitar-Jerala N, Turk V, Zerovnik E
Biol Cell. 2010
PubMed ID: 20078424
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Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium
Am J Hum Genet. 2009
PubMed ID: 19913121
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Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M
Science. 2009
PubMed ID: 19608861
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An extensive survey of tyrosine phosphorylation revealing new sites in human mammary epithelial cells.
Heibeck TH, Ding SJ, Opresko LK, Zhao R, Schepmoes AA, Yang F, Tolmachev AV, Monroe ME, Camp DG, Smith RD, Wiley HS, Qian WJ
J Proteome Res. 2009
PubMed ID: 19534553
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Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S
Anal Chem. 2009
PubMed ID: 19413330
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Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1.
Lehtinen MK, Tegelberg S, Schipper H, Su H, Zukor H, Manninen O, Kopra O, Joensuu T, Hakala P, Bonni A, Lehesjoki AE
J Neurosci. 2009
PubMed ID: 19420257
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Cystatin B associates with signal transducer and activator of transcription 1 in monocyte-derived and placental macrophages.
Luciano-Montalvo C, Meléndez LM
Placenta. 2009
PubMed ID: 19342095
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The mechanism of amyloid-fibril formation by stefin B: temperature and protein concentration dependence of the rates.
Skerget K, Vilfan A, Pompe-Novak M, Turk V, Waltho JP, Turk D, Zerovnik E
Proteins. 2009
PubMed ID: 18636508
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Proteomic analyses associate cystatin B with restricted HIV-1 replication in placental macrophages.
Luciano-Montalvo C, Ciborowski P, Duan F, Gendelman HE, Meléndez LM
Placenta. 2008
PubMed ID: 18951626
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Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination.
Duchon A, Besson V, Pereira PL, Magnol L, Hérault Y
Genetics. 2008
PubMed ID: 18757940
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Interaction with model membranes and pore formation by human stefin B: studying the native and prefibrillar states.
Rabzelj S, Viero G, Gutiérrez-Aguirre I, Turk V, Dalla Serra M, Anderluh G, Zerovnik E
FEBS J. 2008
PubMed ID: 18397316
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Toward a confocal subcellular atlas of the human proteome.
Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Björling E, Asplund A, Pontén F, Brismar H, Uhlén M, Andersson-Svahn H
Mol Cell Proteomics. 2008
PubMed ID: 18029348
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Identification of cystatin B as a potential serum marker in hepatocellular carcinoma.
Lee MJ, Yu GR, Park SH, Cho BH, Ahn JS, Park HJ, Song EY, Kim DG
Clin Cancer Res. 2008
PubMed ID: 18281540
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Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo.
Cipollini E, Riccio M, Di Giaimo R, Dal Piaz F, Pulice G, Catania S, Caldarelli I, Dembic M, Santi S, Melli M
Biochim Biophys Acta. 2008
PubMed ID: 17920138
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Amyloid fibril formation by human stefin B: influence of pH and TFE on fibril growth and morphology.
Zerovnik E, Skarabot M, Skerget K, Giannini S, Stoka V, Jenko-Kokalj S, Staniforth RA
Amyloid. 2007
PubMed ID: 17701471
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Cleavage of the myristoylated alanine-rich C kinase substrate (MARCKS) by cysteine cathepsins in cells and tissues of stefin B-deficient mice.
Kopitar-Jerala N, Turk B
Biol Chem. 2007
PubMed ID: 17655504
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Seizures, ataxia, and neuronal loss in cystatin B heterozygous mice.
Kaasik A, Kuum M, Aonurm A, Kalda A, Vaarmann A, Zharkovsky A
Epilepsia. 2007
PubMed ID: 17319918
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A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression.
Franceschetti S, Sancini G, Buzzi A, Zucchini S, Paradiso B, Magnaghi G, Frassoni C, Chikhladze M, Avanzini G, Simonato M
Neurobiol Dis. 2007
PubMed ID: 17188503
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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, Aalto A, Huopaniemi L, Aula N, Michellucci R, Eriksson K, Lehesjoki AE
Eur J Hum Genet. 2007
PubMed ID: 17003839
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Large-scale mapping of human protein-protein interactions by mass spectrometry.
Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D
Mol Syst Biol. 2007
PubMed ID: 17353931
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Cystatins in non-small cell lung cancer: tissue levels, localization and relation to prognosis.
Werle B, Schanzenbächer U, Lah TT, Ebert E, Jülke B, Ebert W, Fiehn W, Kayser K, Spiess E, Abrahamson M, Kos J
Oncol Rep. 2006
PubMed ID: 16969475
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High affinity copper binding by stefin B (cystatin B) and its role in the inhibition of amyloid fibrillation.
Zerovnik E, Skerget K, Tusek-Znidaric M, Loeschner C, Brazier MW, Brown DR
FEBS J. 2006
PubMed ID: 16939620
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BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Magdaleno S, Jensen P, Brumwell CL, Seal A, Lehman K, Asbury A, Cheung T, Cornelius T, Batten DM, Eden C, Norland SM, Rice DS, Dosooye N, Shakya S, Mehta P, Curran T
PLoS Biol. 2006
PubMed ID: 16602821
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Cystatin B as an intracellular modulator of bone resorption.
Laitala-Leinonen T, Rinne R, Saukko P, Väänänen HK, Rinne A
Matrix Biol. 2006
PubMed ID: 16321512
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Folding and amyloid-fibril formation for a series of human stefins' chimeras: any correlation?
Kenig M, Jenko-Kokalj S, Tusek-Znidaric M, Pompe-Novak M, Guncar G, Turk D, Waltho JP, Staniforth RA, Avbelj F, Zerovnik E
Proteins. 2006
PubMed ID: 16342276
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Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.
Haider MZ, Habeeb Y, Al-Nakkas E, Al-Anzi H, Zaki M, Al-Tawari A, Al-Bloushi M
J Biomed Sci. 2005
PubMed ID: 16205844
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Antisense transcription in the mammalian transcriptome.
Katayama S, Tomaru Y, Kasukawa T, Waki K, Nakanishi M, Nakamura M, Nishida H, Yap CC, Suzuki M, Kawai J, Suzuki H, Carninci P, Hayashizaki Y, Wells C, Frith M, Ravasi T, Pang KC, Hallinan J, Mattick J, Hume DA, Lipovich L, Batalov S, Engström PG, Mizuno Y, Faghihi MA, Sandelin A, Chalk AM, Mottagui-Tabar S, Liang Z, Lenhard B, Wahlestedt C, RIKEN Genome Exploration Research Group, Genome Science Group (Genome Network Project Core Group), FANTOM Consortium
Science. 2005
PubMed ID: 16141073
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The transcriptional landscape of the mammalian genome.
Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, Hirokawa N, Hill D, Huminiecki L, Iacono M, Ikeo K, Iwama A, Ishikawa T, Jakt M, Kanapin A, Katoh M, Kawasawa Y, Kelso J, Kitamura H, Kitano H, Kollias G, Krishnan SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, Lazarevic D, Lipovich L, Liu J, Liuni S, McWilliam S, Madan Babu M, Madera M, Marchionni L, Matsuda H, Matsuzawa S, Miki H, Mignone F, Miyake S, Morris K, Mottagui-Tabar S, Mulder N, Nakano N, Nakauchi H, Ng P, Nilsson R, Nishiguchi S, Nishikawa S, Nori F, Ohara O, Okazaki Y, Orlando V, Pang KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schönbach C, Sekiguchi K, Semple CA, Seno S, Sessa L, Sheng Y, Shibata Y, Shimada H, Shimada K, Silva D, Sinclair B, Sperling S, Stupka E, Sugiura K, Sultana R, Takenaka Y, Taki K, Tammoja K, Tan SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, Kai C, Sasaki D, Tomaru Y, Fukuda S, Kanamori-Katayama M, Suzuki M, Aoki J, Arakawa T, Iida J, Imamura K, Itoh M, Kato T, Kawaji H, Kawagashira N, Kawashima T, Kojima M, Kondo S, Konno H, Nakano K, Ninomiya N, Nishio T, Okada M, Plessy C, Shibata K, Shiraki T, Suzuki S, Tagami M, Waki K, Watahiki A, Okamura-Oho Y, Suzuki H, Kawai J, Hayashizaki Y, FANTOM Consortium, RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group)
Science. 2005
PubMed ID: 16141072
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Interaction of human stefin B in the prefibrillar oligomeric form with membranes. Correlation with cellular toxicity.
Anderluh G, Gutierrez-Aguirre I, Rabzelj S, Ceru S, Kopitar-Jerala N, Macek P, Turk V, Zerovnik E
FEBS J. 2005
PubMed ID: 15955063
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Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, Lindhout D, Salmikangas P, Saukko P, Lahtinen U, Lehesjoki AE
Eur J Hum Genet. 2005
PubMed ID: 15483648
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Cathepsins B and L and their inhibitors stefin B and cystatin C as markers for malignant progression of benign meningiomas.
Trinkaus M, Vranic A, Dolenc VV, Lah TT
Int J Biol Markers. 2005
PubMed ID: 15832773
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Morrin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J, MGC Project Team
Genome Res. 2004
PubMed ID: 15489334
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Gene expression profiling of purified rat retinal ganglion cells.
Farkas RH, Qian J, Goldberg JL, Quigley HA, Zack DJ
Invest Ophthalmol Vis Sci. 2004
PubMed ID: 15277470
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Different propensity to form amyloid fibrils by two homologous proteins-Human stefins A and B: searching for an explanation.
Jenko S, Skarabot M, Kenig M, Guncar G, Musevic I, Turk D, Zerovnik E
Proteins. 2004
PubMed ID: 15048832
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Expression patterns of esophageal cancer deregulated genes in C57BL/6J mouse embryogenesis.
Zhang J, Gao FL, Zhi HY, Luo AP, Ding F, Wu M, Liu ZH
World J Gastroenterol. 2004
PubMed ID: 15069704
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Apoptosis caused by cathepsins does not require Bid signaling in an in vivo model of progressive myoclonus epilepsy (EPM1).
Houseweart MK, Vilaythong A, Yin XM, Turk B, Noebels JL, Myers RM
Cell Death Differ. 2003
PubMed ID: 12934064
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Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention.
Zambrowicz BP, Abuin A, Ramirez-Solis R, Richter LJ, Piggott J, BeltrandelRio H, Buxton EC, Edwards J, Finch RA, Friddle CJ, Gupta A, Hansen G, Hu Y, Huang W, Jaing C, Key BW, Kipp P, Kohlhauff B, Ma ZQ, Markesich D, Payne R, Potter DG, Qian N, Shaw J, Schrick J, Shi ZZ, Sparks MJ, Van Sligtenhorst I, Vogel P, Walke W, Xu N, Zhu Q, Person C, Sands AT
Proc Natl Acad Sci U S A. 2003
PubMed ID: 14610273
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Grafting of features of cystatins C or B into the N-terminal region or second binding loop of cystatin A (stefin A) substantially enhances inhibition of cysteine proteinases.
Pavlova A, Björk I
Biochemistry. 2003
PubMed ID: 14503883
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Cystatin-B is expressed by neural stem cells and by differentiated neurons and astrocytes.
Brännvall K, Hjelm H, Korhonen L, Lahtinen U, Lehesjoki AE, Lindholm D
Biochem Biophys Res Commun. 2003
PubMed ID: 12901878
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Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans.
Osawa M, Kaneko M, Horiuchi H, Kitano T, Kawamoto Y, Saitou N, Umetsu K
Genomics. 2003
PubMed ID: 12573263
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Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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A gene expression map of human chromosome 21 orthologues in the mouse.
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Nature. 2002
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Human chromosome 21 gene expression atlas in the mouse.
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Nature. 2002
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Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.
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J Neuropathol Exp Neurol. 2002
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Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.
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Ann Med. 2002
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Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n.
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J Biomol Struct Dyn. 2001
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Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH.
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J Biomol Struct Dyn. 2001
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Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats.
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Genomic profiling of short- and long-term caloric restriction effects in the liver of aging mice.
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Proc Natl Acad Sci U S A. 2001
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Cystatin B-deficient mice have increased expression of apoptosis and glial activation genes.
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Hum Mol Genet. 2001
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Role of the single cysteine residue, Cys 3, of human and bovine cystatin B (stefin B) in the inhibition of cysteine proteinases.
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Functional annotation of a full-length mouse cDNA collection.
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Nuclear localization of cystatin B, the cathepsin inhibitor implicated in myoclonus epilepsy (EPM1).
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Proc Natl Acad Sci U S A. 2000
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Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray.
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The DNA sequence of human chromosome 21.
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Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons.
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Characterization of the cystatin B gene promoter harboring the dodecamer repeat expanded in progressive myoclonus epilepsy, EPM1.
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Gene. 2000
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Genome Res. 1999
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High-resolution comparative physical mapping of mouse chromosome 10 in the region of homology with human chromosome 21.
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Mamm Genome. 1999
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Methods Enzymol. 1999
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A cluster of keratin-associated proteins on mouse chromosome 10 in the region of conserved linkage with human chromosome 21.
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Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice.
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Nat Genet. 1998
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Cysteine proteinases and their endogenous inhibitors: target proteins for prognosis, diagnosis and therapy in cancer (review).
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Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.
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Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
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Protein Sci. 1997
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Isolation and characterization of the mouse cystatin B gene.
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[Physical training aspect of exercise testing: the evaluation of Master's double 2 step test, augmented Master's test and Cooper's submaximum single-level load exercise test (author's transl)]
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