Jakobsson J

Mini-heterochromatin domains constrain the cis-regulatory impact of SVA transposons in human brain development and disease.

Horváth V, Garza R, Jönsson ME, ..., Douse CH, Jakobsson J

Nat. Struct. Mol. Biol. 31 (10) 1543-1556 [2024-10-00; online 2024-06-04]

Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

DNA methylation governs the sensitivity of repeats to restriction by the HUSH-MORC2 corepressor.

Pandiloski N, Horváth V, Karlsson O, ..., Jakobsson J, Douse CH

Nat Commun 15 (1) 7534 [2024-08-30; online 2024-08-30]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

The annotation of GBA1 has been concealed by its protein-coding pseudogene GBAP1.

Gustavsson EK, Sethi S, Gao Y, ..., Hardy J, Ryten M

Sci Adv 10 (26) eadk1296 [2024-06-28; online 2024-06-26]

Clinical Genomics [Service] Clinical Genomics Lund [Service]

LINE-1 retrotransposons drive human neuronal transcriptome complexity and functional diversification.

Garza R, Atacho DAM, Adami A, ..., Douse CH, Jakobsson J

Sci Adv 9 (44) eadh9543 [2023-11-03; online 2023-11-01]

Clinical Genomics [Service] Clinical Genomics Lund [Service] NGI Long read [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease.

Pircs K, Drouin-Ouellet J, Horváth V, ..., Barker RA, Jakobsson J

Brain 145 (9) 3035-3057 [2022-09-14; online 2021-12-23]

Clinical Genomics [Service] Clinical Genomics Lund [Service]

Activation of endogenous retroviruses during brain development causes an inflammatory response.

Jönsson ME, Garza R, Sharma Y, ..., Jern P, Jakobsson J

EMBO J. 40 (9) e106423 [2021-05-03; online 2021-03-01]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics [Service] Clinical Genomics Lund [Service]