Research Summary - Patients

Our group’s research interests are focused on the interplay between genetic and non-genetic factors in Autism.

The key areas of interest where we have developed expertise are:

  1. Phelan McDermid Syndrome

  2. Acrodermatitis enteropathica

We have developed expertise in the analysis of human samples, such as blood and hair for biometal levels and their correlation with clinical symptoms.

Current projects:

Acrodermatitis enteropathica and neuronal alterations

Functional interaction of various risk factors for Autism

RESEARCH experience:


Pfaender S, Sauer AK, Hagmeyer S, Mangus K, Linta L, Liebau S, Bockmann J, Huguet G, Bourgeron T, Boeckers TM, Grabrucker AM. Zinc deficiency and low enterocyte zinc transporter expression in human patients with autism related mutations in SHANK3, SciRep, 2017; 7:45190.

Pfaender S, Grabrucker AM: Characterization of biometal - profiles in neurological disorders. Metallomics, 2014; 6 (5): 960-77

Grabrucker AM, Environmental factors in autism. Front. Psychiatry. 2012, 3: 118.

GRABRUCKER AM, SCHMEISSER MJ, SCHOEN M, BOECKERS TM: Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. Trends in Cell Biology 2011, (10): 594-603.

GRABRUCKER AM, ROWAN M, GARNER CC: Brain-delivery of Zinc-ions as potential treatment for neurological diseases. Drug Delivery Letters 2011, 1 (1) 13-23.


GRABRUCKER S, GRABRUCKER AM: Chapter 9: Zinc and autism, in White A (Ed): Biometals in Neurodegenerative Diseases: Mechanisms and Therapeutics. Elsevier, 2017 [in press]

SAROWAR T, GRABRUCKER AM. Neurodegenerative Diseases: Anatomy and Pathology, in: Tosi G (Ed): Frontiers in Nanomedicine: Nanomedicine and Neuroscience. Bentham Science Publishers, 2016 [in press]

GRABRUCKER AM, SCHMEISSER MJ: Ursachen, in: G. Theunissen (Ed): Handlexikon Autismus-Spektrum: Schlüsselbegriffe aus Forschung, Theorie, Praxis und Betroffenen-Sicht, 2014; Stuttgart: Kohlhammer, pp. 382-392.