Maja Bindslev Loesch

Ms. Maja Bindslev Loesch


Research Focus & Metrics

Academic Career Length

1Year (2026-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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22 October 2026 in Preprints.org
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MMMaik Matthews
Maik Matthews
ABAndreas Høiberg Bentsen
Andreas Høiberg Bentsen
SCSara Carraqueira
Sara Carraqueira
MLMaja Bindslev Loesch
Maja Bindslev Loesch
PFPablo Fernandez-Vaquero
Pablo Fernandez-Vaquero
Asli N. SilahtarogluAsli N. Silahtaroglu
Asli N. Silahtaroglu
Background: We previously reported a familial balanced translocation t(8;20)(p12;q11.23) segregating with early-onset, non-progressive, mild cerebellar ataxia. The association between the translocation and the phenotype remains elusive, even though the chromosome 20 breakpoint disrupts the DLGAP4 gene. Objectives: In this project, we aim to revisit the breakpoint region on chromosome 8 for any genes, transcripts, or mechanisms affected by the rearrangement and assess their potential contribution to the cerebellar ataxia phenotype. Results: The chromosome 8 breakpoint disrupts a previously uncharacterized conjoined transcript, PURG-TEX15, expressed in the adult human brain, particularly in Purkinje cell dendrites in the cerebellum, which are important for motor coordination. PURG-TEX15 encodes a stable protein localized to the nucleus and cytoplasm, where it presents as distinct, dense perinuclear foci. In addition, the translocation generates a fusion transcript, PURG::DLGAP4, encoding a stable protein with slightly altered properties compared with wild-type PURG. Methods: We assessed the molecular consequences of the rearrangement on the disrupted novel transcript, PURG-TEX15, at the bioinformatic, RNA, and protein level using material from human and mouse brain. Conclusions: We identify PURG-TEX15, a previously unrecognized protein-coding conjoined transcript expressed in Purkinje cells, disrupted by a balanced translocation, t(8;20), associated with familial cerebellar ataxia. The translocation alters multiple neuronal transcripts through gene disruption and fusion transcript formation. The breakpoints span PURG-TEX15 and the brain-specific isoform of DLGAP4, generating a potentially functional PURG::DLGAP4 fusion protein. This supports a model in which PURG-TEX15 disruption plays a central role in cerebellar ataxia pathogenesis, either alone or in combination with the PURG::DLGAP4 fusion protein and/or DLGAP4 truncation. More broadly, this work highlights the biological significance of chimeric transcripts in the nervous system and implicates their dysregulation as an underrecognized mechanism in neurodevelopmental and neurological disorders. The study also shows the complexity of genome reorganization by balanced structural variants.