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An International Management Platform for Children´s Interstitial Lung Disease (chILD-EU)
Griese M, Seidl E, Hengst M, Reu S, Rock H, Antony G, Kiper N, Emiralioğlu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, Maclean M, Nicholson A, McCann L, Clement A, Epaud R, De Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A and the other chILD-EU collaborators.
Thorax 2017, in press

Quantification of volume and lipid filling of intracellular vesicles carrying the ABCA3 transporter.
Höppner S, Kinting S, Torrano AA, Schindlbeck U, Bräuchle C, Zarbock R, Wittman T, Griese M.
Biochim Biophys Acta. 2017 Sep 5. pii: S0167-4889(17)30229-X.

Pulmonary Alveolar Proteinosis: A Comprehensive Clinical Perspective.
Griese M.
Pediatrics. 2017 Aug;140(2). pii: e20170610.

Serum YKL-40 is a reliable biomarker for pulmonary alveolar proteinosis.
Bonella F, Long X, He X, Ohshimo S, Griese M, Guzman J, Costabel U.
Respirology. 2017 Oct;22(7):1371-1378. doi: 10.1111/resp.13082. Epub 2017 May 31.

Management of children with interstitial lung diseases: the difficult issue of acute exacerbations.
Clement A, de Blic J, Epaud R, Galeron L, Nathan N, Hadchouel A, Barbato A, Snijders D, Kiper N, Cunningham S, Griese M, Bush A, Schwerk N; chILD-EU collaboration.
Eur Respir J. 2016 Dec;48(6):1559-1563.

Serum YKL-40 as predictor of outcome in hypersensitivity pneumonitis.
Long X, He X, Ohshimo S, Griese M, Sarria R, Guzman J, Costabel U, Bonella F.
Eur Respir J. 2017 Feb 23;49(2). pii: 1501924.

Whole lung lavage therapy for pulmonary alveolar proteinosis: a global survey of current practices and procedures.
Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters J, Nakata K, Van Moorsel CH, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti GA, Tinelli C, Rodi G; WLL International Study Group.
Orphanet J Rare Dis. 2016 Aug 31;11(1):115.

Lung disease caused by ABCA3 mutations.
Kröner C, Wittmann T, Reu S, Teusch V, Klemme M, Rauch D, Hengst M, Kappler M, Cobanoglu N, Sismanlar T, Aslan AT, Campo I, Proesmans M, Schaible T, Terheggen-Lagro S, Regamey N, Eber E, Seidenberg J, Schwerk N, Aslanidis C, Lohse P, Brasch F, Zarbock R, Griese M.
Thorax. 2017 Mar;72(3):213-220.

A Global Survey on Whole Lung Lavage in Pulmonary Alveolar Proteinosis.
Campo I, Luisetti M, Griese M, Trapnell BC, Bonella F, Grutters JC, Nakata K, Van Moorsel CH, Costabel U, Cottin V, Ichiwata T, Inoue Y, Braschi A, Bonizzoni G, Iotti GA, Tinelli C, Rodi G; WLL International Study Group.
Chest. 2016 Jul;150(1):251-3.

European idiopathic pulmonary fibrosis Patient Charter: a missed opportunity.
Bush A, Barbato A, Clement A, Cunningham S, Blic Jd, Gilbert C, Goldbeck L, Kiper N, Schwerk N, Griese M.
Eur Respir J. 2016 Jul;48(1):282-3.

Homooligomerization of ABCA3 and its functional significance.
Frixel S, Lotz-Havla AS, Kern S, Kaltenborn E, Wittmann T, Gersting SW, Muntau AC, Zarbock R, Griese M.
Int J Mol Med. 2016 Aug;38(2):558-66.

Serum Levels of Surfactant Proteins in Patients with Combined Pulmonary Fibrosis and Emphysema (CPFE).
Papaioannou AI, Kostikas K, Manali ED, Papadaki G, Roussou A, Spathis A, Mazioti A, Tomos I, Papanikolaou I, Loukides S, Chainis K, Karakitsos P, Griese M, Papiris S.
PLoS One. 2016 Jun 23;11(6):e0157789.

Tools to explore ABCA3 mutations causing interstitial lung disease.
Wittmann T, Schindlbeck U, Höppner S, Kinting S, Frixel S, Kröner C, Liebisch G, Hegermann J, Aslanidis C, Brasch F, Reu S, Lasch P, Zarbock R, Griese M.
Pediatr Pulmonol. 2016 Dec;51(12):1284-1294.

MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis.
Bonella F, Long X, Ohshimo S, Horimasu Y, Griese M, Guzman J, Kohno N, Costabel U.
Orphanet J Rare Dis. 2016 Apr 23;11:48.

Analysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved Proteases.
Hofmann N, Galetskiy D, Rauch D, Wittmann T, Marquardt A, Griese M, Zarbock R.
PLoS One. 2016 Mar 31;11(3):e0152594. doi: 10.1371/journal.pone.0152594. eCollection 2016.

Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3.
Wittmann T, Frixel S, Höppner S, Schindlbeck U, Schams A, Kappler MV, Hegermann J, Wrede C, Liebisch G, Vierzig A, Zacharasiewicz A, Kopp M, Poets CF, Baden W, Hartl D, Van Kaam AH, Lohse P, Aslanidis C, Zarbock R, Griese M.
Mol Med. 2016 Feb 26. doi: 10.2119/molmed.2015.00244. [Epub ahead of print]

Pulmonary alveolar proteinosis in a cat.
Szatmári V, Teske E, Nikkels PG, Griese M, de Jong PA, Grinwis G, Theegarten D, Veraa S, van Steenbeek FG, Drent M, Bonella F.
BMC Vet Res. 2015 Dec 9;11:302. doi: 10.1186/s12917-015-0613-4.

Cardiovascular risk in pulmonary alveolar proteinosis.
Manali ED, Papadaki G, Konstantonis D, Tsangaris I, Papaioannou AI, Kolilekas L, Schams A, Kagouridis K, Karakatsani A, Orfanos S, Griese M, Papiris SA.
Expert Rev Respir Med. 2016 Feb;10(2):235-40. doi: 10.1586/17476348.2016.1116389. Epub 2015 Nov 27.

Persistent Tachypnea of Infancy. Usual and Aberrant.
Rauch D, Wetzke M, Reu S, Wesselak W, Schams A, Hengst M, Kammer B, Ley-Zaporozhan J, Kappler M, Proesmans M, Lange J, Escribano A, Kerem E, Ahrens F, Brasch F, Schwerk N, Griese M; PTI (Persistent Tachypnea of Infancy) Study Group of the Kids Lung Register.
Am J Respir Crit Care Med. 2016 Feb 15;193(4):438-47. doi: 10.1164/rccm.201508-1655OC.

Pushing chILD Forward: The Bright Future of Children's Interstitial Lung Diseases.
Griese M.
Ann Am Thorac Soc. 2015 Oct;12(10):1428-9. doi: 10.1513/AnnalsATS.201508-550ED. No abstract available.

Categorizing diffuse parenchymal lung disease in children.
Griese M, Irnstetter A, Hengst M, Burmester H, Nagel F, Ripper J, Feilcke M, Pawlita I, Gothe F, Kappler M, Schams A, Wesselak T, Rauch D, Wittmann T, Lohse P, Brasch F, Kröner C.
Orphanet J Rare Dis. 2015 Sep 25;10(1):122. doi: 10.1186/s13023-015-0339-1.

Surfactant proteins in pediatric interstitial lung disease.
Griese M, Lorenz E, Hengst M, Schams A, Wesselak T, Rauch D, Wittmann T, Kirchberger V, Escribano A, Schaible T, Baden W, Schulze J, Krude H, Aslanidis C, Schwerk N, Kappler M, Hartl D, Lohse P, Zarbock R.
Pediatr Res. 2016 Jan;79(1-1):34-41. doi: 10.1038/pr.2015.173. Epub 2015 Sep 16.

Respiratory Bronchiolitis-Associated Interstitial Lung Disease in Childhood: New Sequela of Smoking.
Sismanlar T, Aslan AT, Turktas H, Memis L, Griese M.
Pediatrics. 2015 Oct;136(4):e1026-9. doi: 10.1542/peds.2015-1303. Epub 2015 Sep 7.

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.
Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, Thiel A, Schams A, Lange J, Krenke K, Wesselak T, Schön C, Kappler M, Blum H, Krebs S, Jung A, Kröner C, Klein C, Campo I, Luisetti M, Bonella F.
BMC Pulm Med. 2015 Aug 12;15:87. doi: 10.1186/s12890-015-0083-2.

European protocols for the diagnosis and initial treatment of interstitial lung disease in children.
Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, Snijders D, Schwerk N, Griese M; chILD-EU Collaboration.
Thorax. 2015 Nov;70(11):1078-84. doi: 10.1136/thoraxjnl-2015-207349. Epub 2015 Jul 1. Review.

In vivo genome editing using nuclease-encoding mRNA corrects SP-B deficiency.
Mahiny AJ, Dewerth A, Mays LE, Alkhaled M, Mothes B, Malaeksefat E, Loretz B, Rottenberger J, Brosch DM, Reautschnig P, Surapolchai P, Zeyer F, Schams A, Carevic M, Bakele M, Griese M, Schwab M, Nürnberg B, Beer-Hammer S, Handgretinger R, Hartl D, Lehr CM, Kormann MS.
Nat Biotechnol. 2015 Jun;33(6):584-6. doi: 10.1038/nbt.3241. Epub 2015 May 18. No abstract available.

Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island.
Hadchouel A, Wieland T, Griese M, Baruffini E, Lorenz-Depiereux B, Enaud L, Graf E, Dubus JC, Halioui-Louhaichi S, Coulomb A, Delacourt C, Eckstein G, Zarbock R, Schwarzmayr T, Cartault F, Meitinger T, Lodi T, de Blic J, Strom TM.
Am J Hum Genet. 2015 May 7;96(5):826-31. doi: 10.1016/j.ajhg.2015.03.010. Epub 2015 Apr 23.

Pulmonary alveolar proteinosis: time to shift?
Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.
Expert Rev Respir Med. 2015 Jun;9(3):337-49. doi: 10.1586/17476348.2015.1035259. Epub 2015 Apr 12. Review.

ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.
Zarbock R, Kaltenborn E, Frixel S, Wittmann T, Liebisch G, Schmitz G, Griese M.
Biochim Biophys Acta. 2015 Jul;1851(7):987-95. doi: 10.1016/j.bbalip.2015.03.004. Epub 2015 Mar 25.

Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.
Reunert J, Lotz-Havla AS, Polo G, Kannenberg F, Fobker M, Griese M, Mengel E, Muntau AC, Schnabel P, Sommerburg O, Borggraefe I, Dardis A, Burlina AP, Mall MA, Ciana G, Bembi B, Burlina AB, Marquardt T.
JIMD Rep. 2015;23:17-26. doi: 10.1007/8904_2015_423. Epub 2015 Mar 13.

Surfactant lipidomics in healthy children and childhood interstitial lung disease.
Griese M, Kirmeier HG, Liebisch G, Rauch D, Stückler F, Schmitz G, Zarbock R; ILD-BAL working group of the Kids-Lung-Register.
PLoS One. 2015 Feb 18;10(2):e0117985. doi: 10.1371/journal.pone.0117985. eCollection 2015.

Life-threatening, giant pneumatoceles in the course of surfactant protein C deficiency.
Sismanlar T, Aslan AT, Griese M.
Pediatr Pulmonol. 2015 Feb 9. doi: 10.1002/ppul.23162. [Epub ahead of print]

Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients.
Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M.
Eur Respir J. 2015 Feb 5. pii: ERJ-01294-2014. [Epub ahead of print]

Hydroxychloroquine in children with interstitial (diffuse parenchymal) lung diseases.
Braun S, Ferner M, Kronfeld K, Griese M.
Pediatr Pulmonol. 2014 Dec 9. doi: 10.1002/ppul.23133. [Epub ahead of print]

 

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.
Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, Kiper N, Khalilzadeh S, Reiter K, Sayer J, Schwerk N, Sibbersen A, Van Daele S, Nübling G, Lohse P, Griese M.
Orphanet J Rare Dis. 2014 Nov 26;9(1):171. [Epub ahead of print]

 

Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?
Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, Boulay V, Darcel F, Griese M, Linard M, Louha M, Renouil M, Rivière JP, Toupance B, Verkarre V, Delacourt C, de Blic J.
Orphanet J Rare Dis. 2014 Jun 14;9:85. doi: 10.1186/1750-1172-9-85.

 

Long-term inhaled granulocyte macrophage-colony-stimulating factor in autoimmune pulmonary alveolar proteinosis: effectiveness, safety, and lowest effective dose.
Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.
Clin Drug Investig. 2014 Aug;34(8):553-64. doi: 10.1007/s40261-014-0208-z.

 

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M.
Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43.

 

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H.
J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8.

 

Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.
van Hoorn J, Brouwers A, Griese M, Kramer B.
BMJ Case Rep. 2014 Mar 19;2014. pii: bcr2013203053. doi: 10.1136/bcr-2013-203053.

 

Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, Bartsch M, Schmitz G, Mildenberger E.
Klin Padiatr. 2014 Apr;226(2):53-8. doi: 10.1055/s-0033-1363687. Epub 2014 Mar 14. Review.

 

Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children.
Griese M, Haug M, Hartl D, Teusch V, Glöckner-Pagel J, Brasch F; National EAA Study Group.
Orphanet J Rare Dis. 2013 Aug 8;8:121. doi: 10.1186/1750-1172-8-121.

 

Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine.
Hepping N, Griese M, Lohse P, Garbe W, Lange L.
J Perinatol. 2013 Jun;33(6):492-4. doi: 10.1038/jp.2012.131.

 

SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.
Thurm T, Kaltenborn E, Kern S, Griese M, Zarbock R.
Eur J Clin Invest. 2013 Aug;43(8):791-800. doi: 10.1111/eci.12107. Epub 2013 May 24.

 

Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis.
Bonella F, Ohshimo S, Miaotian C, Griese M, Guzman J, Costabel U.
Orphanet J Rare Dis. 2013 Apr 4;8:53. doi: 10.1186/1750-1172-8-53.

    

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.
Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.

       

Research in progress: put the orphanage out of business
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Andrew Bush, Gisela Anthony, Angelo Barbato, Steve Cunningham, Annick Clement, R Epaud, Carlee Gilbert, Lutz Goldbeck, Kai Kronfeld, Andrew G Nicholson, Nicolaus Schwerk, Matthias Griese, on behalf of the ch-ILD collaborators
Thorax Online First, published on February 21, 2013 as 10.1136/thoraxjnl-2012-203201