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Scientific Publications

Curious About the Latest Scientific Discoveries?

A Variant in NUDT2 Causes a Recessive Neurodevelopmental Disorder

A variant in NUDT2 causes a neurodevelopmental disorder. A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.

A recent study on 337 patients with various forms of intellectual disability proposed the homozygous nonsense variant c.34C>T (p.Arg12*) in NUDT2 to underlie global developmental delay in 2 affected sisters.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Alfadhel, Majid, MD, Bertoli-Avella, Aida M., MD, Brandau, Oliver, MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Al-Sannaa, Nouriya, Yavuz, Halenur, Al-Tuwaijri, W
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Rapid Intravenous Enzyme Infusion

Rapid intravenous enzyme infusion. In the latest issue of American Journal of Hematology, we have published results of a recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1.

In the latest issue of American Journal of Hematology, we have published results of recent collaborative study on development of enzyme replacement therapies in Gaucher disease type 1. Together with colleagues from University Rostock, Israel and Australia, we tested effects of rapid intravenous infusion of velaglucerase-alfa and its effects in adult patients affected with type 1 Gaucher disease.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Chicco, Gaya, Zimran, Ari, MD, Revel-Vilk, Shoshana, MD MSc, Becker Cohen, Michal, MSc, Arbel, Naama, Szer, Jeff, MD
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De Novo ITPR1 Variants Are a Cause of Early-Onset Ataxia

We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA).

We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA).

Neurology
Author(s): Bauer, Dr. Peter, MD, Chen, Wenjuan, Helbig, Katherine, Tang, Sha, PhD, Harmuth, Florian, Schöls, Ludger, MD, Synofzik, Matthis, MD, Deconinck, T, Tanpaiboon, P, Sun, B, Guo, W, Wang, R, Palmaer, E, Schaefer, GB, Gburek-Augustat, J, Züchner, S, Krägeloh-Mann, I, Baets, J, de Jonghe, P, Schüle, R
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Evolution of Outcome Measures in Spinocerebellar Ataxias

To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6.

To study the long-term evolution of patient-reported outcome measures (PROMs) in the most common spinocerebellar ataxias (SCAs), we analyzed 8 years follow-up data of the EUROSCA Natural History Study, a cohort study of 526 patients with SCA1, SCA2, SCA3 and SCA6.

Neurology
Author(s): Bauer, Dr. Peter, MD, Schulz, Prof. Jörg B., MD, Jacobi, Heike, MD, Schöls, Ludger, MD, Boesch, Sylvia, MD, van de Warrenburg, Bart, MD, Kang, Jun-Suk, MD, Timmann, Dagmar, MD, Filla, Alessandro, MD, Klockgether, Thomas, MD, du Montcel, ST, Giunti, P, Cook, A, Labrum, R, Parkinson, MH, Durr, A, Brice, A, Charles, P, Marelli, C
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The First Missense Pathogenic Variant in the KAT6A Gene

CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”

CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”

NeurologyWES
Author(s): Trinh, Joanne, Phd, Hüning, Irina, MD, Yüksel, Zafer, MD, Baalmann, N, Imhoff, S, Klein, Prof. Christine, MD, Rolfs, Prof. Arndt, MD, Gillessen-Kaesbach, Prof. Gabriele, MD, Lohmann, Katja, PhD
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The diagnosis of chronic endometritis in infertile asymptomatic women: a comparative study of histology, microbial cultures, hysteroscopy, and molecular microbiology

Molecular microbiology improves the detection of endometrial microorganisms compared with classic diagnostic methods.

Chronic endometritis is a persistent inflammation of the endometrial mucosa caused by bacterial pathogens such as Enterobacteriaceae, Enterococcus, Streptococcus, Staphylococcus, Mycoplasma, and Ureaplasma. Although chronic endometritis can be asymptomatic, it is found in up to 40% of infertile patients and is responsible for repeated implantation failure and recurrent miscarriage. Diagnosis of chronic endometritis is based on hysteroscopy of the uterine cavity, endometrial biopsy with plasma cells being identified histologically, while specific treatment is determined based on microbial culture. However, not all microorganisms implicated are easily or readily culturable needing a turnaround time of up to 1 week.

Reproductive Health
Author(s): Inmaculada Moreno, PhD; Iolanda Garcia, MD; Carlos Simon, MD, PhD.
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Targeting G Protein-Coupled Receptors

Unbiased chemoproteomic profiling of small-molecule interactions with endogenous proteins is important for drug discovery. For meaningful results, all protein classes have to be tractable, including G protein-coupled receptors (GPCRs).

Unbiased chemoproteomic profiling of small-molecule interactions with endogenous proteins is important for drug discovery. For meaningful results, all protein classes have to be tractable, including G protein-coupled receptors (GPCRs). These receptors are hardly tractable by affinity pulldown from lysates. We report a capture compound (CC)-based strategy to target and identify GPCRs directly from living cells.

BiodatabankBiomarker
Author(s): Blex, C
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Dyskeratosis Congenita with a Novel Variant in the DKC1 Gene

Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties.

Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties.

Dysmorphology
Author(s): Brandau, Oliver, MD, Grüning, Nana-Maria, Ratnasamy, V, Navaneethakrishnan, S, Sirisena, ND, Thirunavukarasu, K, Dagnall, CL, Savage, SA, Dissanayake, VHW
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Quantification of Amino Acids and Peptides

Aqueous two-phase systems (ATPS) occur by the mixture of two polymers or a polymer and an inorganic salt in water. It was shown that not only polymers but also ionic liquids in combination with inorganic cosmotrophic salts are able to build ATPS.

Aqueous two-phase systems (ATPS) occur by the mixture of two polymers or a polymer and an inorganic salt in water. It was shown that not only polymers but also ionic liquids in combination with inorganic cosmotrophic salts are able to build ATPS. Suitable for the formation of ionic liquid-based ATPS systems are hydrophilic water miscible ionic liquids. To understand the driving force for amino acid and peptide distribution in IL-ATPS at different pH values, the ionic liquid Ammoeng 110™ and K2HPO4 have been chosen as a test system.

Biomarker
Author(s): Oppermann, S
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Biallelic Inactivating Variants in the GTPBP2 Gene Cause a Neurodevelopmental Disorder with Severe Intellectual Disability

Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed.

Congenital neurological disorders are genetically highly heterogeneous. Rare forms of hereditary neurological disorders are still difficult to be adequately diagnosed.

Neurology
Author(s): Yüksel, Zafer, MD, Rolfs, Prof. Arndt, MD, Bertoli-Avella, Aida M., MD, Brandau, Oliver, MD, Bauer, Dr. Peter, MD, Marais, Anett, Paknia, Omid, PhD, Garcia-Aznar, Jose Maria, Al-Sannaa, Nouriya, Alameer, S, Al Hakami, F, Grüning, Nana-Maria, Abbasi Moheb, Lia, Alshaikh, N, Marafi, MJ, Al-Mulla, F
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Recommendations for the Detection and Diagnosis of Niemann-Pick Disease Type C: An Update.

Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Discover more about the progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice.

Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice.

BiomarkerMetabolic Disorders
Author(s): Bauer, Dr. Peter, MD, Ory, Daniel S., MD, Patterson, MC, Clayton, P, Gissen, P, Anheim, M, Bonnot, O, Dardis, A, Dionisi-Vici, C, Klünemann, H.H., Latour, P, Lourenço, C.M., Parker, A, Pocovi, M, Strupp, M., Vanier, M.T., Walterfang, M., Marquardt, T
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Glucosylsphingosine Is a Reliable Response Biomarker

Pursuing our research quest for selective and specific biomarkers we have designed and performed a research study involving potential biomarkers for Gaucher disease and we have identified a glucosylsphingosine as a reliable responsible biomarker for this disease.

Perusing our research quest for selective and specific biomarkers we have designed and performed a research study involving potential biomarkers for Gaucher disease and we have identified a glucosylsphingosine as a reliable responsible biomarker for this disease.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Eichler, Sabrina, PhD, Dinur, Tama, PhD, Zimran, Ari, MD, Cozma, Dr. rer. nat. Claudia, MD, Hovakimyan, Marina, PhD, Revel-Vilk, Shoshana, MD MSc, Becker Cohen, Michal, MSc, Arkadir, David, Dr.
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Childhood Cerebral X-Linked Adrenoleukodystrophy with Atypical Neuroimaging Abnormalities and a Novel Mutation

Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities.

Childhood cerebral X-linked adrenoleukodystrophy (XALD) typically manifests with symptoms of adrenocortical insufficiency and a variety of neurocognitive and behavioral abnormalities.

EndocrinologyMetabolic DisordersNephrology
Author(s): Eichler, Sabrina, PhD, Muranjan, M, Karande, S, Sankhe, S
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Expanding the Clinical and Genetic Spectra of NKX6-2-Related Disorder

Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD.

Hypomyelinating leukodystrophies (HLDs) affect the white matter of the central nervous system, and manifest as neurological disorders. They are genetically heterogeneous. Very recently, biallelic variants in NKX6-2 have been suggested to cause a novel form of autosomal recessive HLD.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Alfadhel, Majid, MD, Bertoli-Avella, Aida M., MD, Brandau, Oliver, MD, Kandaswamy, Krishna Kumar, PhD, Bauer, Dr. Peter, MD, Baldi, Caterina, PhD, Al-Sannaa, Nouriya, Al-Thilhi, K, Alameer, S, Elmonairy, A.A., Al Shamsi, AM, Abdelrahman, H.A., Al-Gazali, L, Shawli, A., Al Hakami, F, Yavuz, Halenur
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Hereditary Spastic Paraplegia Type 5: Natural History, Biomarkers and a Randomized Controlled Trial

Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. Read more about recent SPG5 research!

Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1 deficiency has been shown to lead to accumulation of neurotoxic oxysterols. In this multicentre study, we have performed detailed clinical and biochemical analysis in 34 genetically confirmed SPG5 cases from 28 families, studied dose-dependent neurotoxicity of oxysterols in human cortical neurons and performed a randomized placebo-controlled double blind interventional trial targeting oxysterol accumulation in serum of SPG5 patients.

Neurology
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