Schreml lab
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Schreml lab

Principal investigator

Dr. med. Julia Schreml

Institut für Humangenetik
Kerpener Str. 34
50931 Köln (Cologne), Germany
Tel.: +49 221 478-86612

Fax: +49 221 478-86865


Group members


Group research focus

Rare disorders of the adipose tissue and rare disorders of fat metabolism

For a long time it was thought that the human adipose tissue mainly served the purpose of energy storage in the form of triglycerides.  In the recent past, other functions of the adipose organ have been increasingly gaining attention – mainly linked with diseases of the circulatory system, diabetes and morbid obesity. By now, the enormous importance of the adipose tissue in numerous physiological and pathological processes has been well established. The exact mechanisms underlying these functions, however, are not well understood.

Our aim is to unravel the molecular genetic basis of rare disorders of the fat tissue and fat metabolism.  The results of our research may have considerable impact on affected families, which are in need of interdisciplinary care. Through phenotypic characterization and examination of patients with a recognizable appearance, we hope to gain new insight into key elements in the regulation of fat cell physiology and fat metabolism.



A. Multiple Symmetric Lipomatosis

B. Multiple Familial Lipomatosis

C. Lipodystrophy syndromes and rare disorders of fat metabolism


Publications of the last five years


Haverkampf S, Heider J, Weiß KT, Berneburg M, Karrer S, Schreml S, Haubner F, Ettl T, Schreml J, Hedtrich S, von Süßkind-Schwendi M, Dissemond J.
NHE1 expression at wound margins increases time-dependently during physiological healing.
Exp Dermatol. 2017;26(2):124-126.

PubMed PMID: 27249231

Weiß KT, Fante M, Köhl G, Schreml J, Haubner F, Kreutz M, Haverkampf S, Berneburg M, Schreml S.
Proton-sensing G protein-coupled receptors as regulators of cell proliferation and migration during tumor growth and wound healing.
Exp Dermatol. 2017;26(2):127-132.

PubMed PMID: 27623507


Prantl L, Schreml J, Gehmert S, Klein S, Bai X, Zeitler K, Schreml S, Alt E, Gehmert S, Felthaus O.
Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells.
Plast Reconstr Surg. 2016;137(4):1181-90.

PubMed PMID: 27018673

Sander D, Schröder J, Schönbuchner I, Schreml J, Karrer S, Berneburg M, Schreml S Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq.
Case Rep Dermatol. 2016;8(1):19-21.

PubMed PMID: 26933410


Schreml J, Durmaz B, Cogulu O, Keupp K, Beleggia F, Pohl E, Milz E, Coker M, Kalkan Ucar S, Nürnberg G, Nürnberg P, Kuhn J, Ozkinay F: An autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum Genet. 2014 Jan;133(1):29-39.

PubMed PMID: 23982343


Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow J-C, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE: Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with infantile hyperkinetic movements and intellectual disability. Am J Hum Genet. 2013 Jul 11;93(1):181-90.

PubMed PMID: 23830518

Schreml J, Riessland M, Paterno M, Garbes L, Roßbach K, Ackermann B, Krämer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B.
Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585.
Eur J Hum Genet. 2013;21(6): 643-52.

PubMedID: 23073311

Ackermann B, Kröber S, Torres-Benito L, Borgmann A, Peters M, Hosseini Barkooie SM, Tejero R, Jakubik M, Schreml J, Milbradt J, Wunderlich TF, Riessland M, Tabares L, Wirth B.
Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.
Hum Mol Genet. 2013;22(7): 1328-47.

PubMedID: 23263861

Garbes L, Heesen L, Hölker I, Bauer T, Schreml J, Zimmermann K, Thoenes M, Walter M, Dimos J, Peitz M, Brüstle O, Heller R, Wirth B.
VPA response in SMA is suppressed by the fatty acid translocase CD36.
Hum Mol Genet. 2013;22(2): 398-407.

PubMedID: 23077215

Somers E, Riessland M, Schreml J, Wirth B, Gillingwater TH, Parson SH.
Increasing SMN levels using the histone deacetylase inhibitor SAHA ameliorates defects in skeletal muscle microvasculature in a mouse model of severe spinal muscular atrophy.
Neurosci Lett. 2013;544: 100-4.

PubMedID: 23583590

Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, Bieg A, Gliem M, Charbel Issa P, Holz FG, Baig SM, Hellenbroich Y, Galvez A, Platzer K, Wollnik B, Laddach N, Ghaffari SR, Rafati M, Botzenhart E, Tinschert S, Börger D, Bohring A, Schreml J, Körtge-Jung S, Schell-Apacik C, Bakur K, Al-Aama JY, Neuhann T, Herkenrath P, Nürnberg G, Nürnberg P, Davis JS, Gal A, Bergmann C, Lorenz B, Bolz HJ.
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
PLoS ONE. 2013;8(11): e78496.

PubMedID: 24265693

Schreml J, Riessland M, Paterno M, Garbes L, Rossbach K, Ackermann B, Krämer J, Somers E, Parson SH, Heller R, Berkessel A, Sterner-Kock A, Wirth B: Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585. Eur J Hum Genet. 2013 Jun;21(6):643-52. doi: 10.1038/ejhg.2012.222. Epub 2012 Oct 17.

PubMed PMID: 23073311


Mutsaers CA, Wishart TM, Lamont DJ, Riessland M, Schreml J, Comley LH, Murray LM, Parson SH, Lochmüller H, Wirth B, Talbot K, Gillingwater TH.
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy.
Hum Mol Genet. 2011;20(22):4334-44.

PubMedID: 21840928