Angelica Nordin

AT-Läkare och forskare med genetik som specialområde.

Kontakt

angelica.nordin@umu.se

Verksam vid

Anknuten som övrig/annan befattning till Institutionen för klinisk vetenskap Enhet: Neurovetenskaper

Norrlands universitetssjukhus, Umeå universitet, Klinisk vetenskap Umeå universitet, Klinisk vetenskap, 901 85 Umeå

AT-Läkare och forskare med genetik som specialområde.

Gör just nu forskar-AT vid Norrlands Universitetssjukhus i Umeå.

Forskar om genetiken bakom ALS med fokus på expansion av en repetetiv sekvens (hexanukleotiden GGGGCC) i C9orf72- den vanligaste mutation som orsakar ALS och frontallobsdemens, FTD.

De novo mutations in SOD1 are a cause of ALS

Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group Ltd 2022, Vol. 93 : 201-206

Müller, Kathrin; Oh, Ki-Wook; Nordin, Angelica; et al.

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Nature Genetics, Nature Publishing Group 2021, Vol. 53, (12) : 1636-1648

van Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; et al.

PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis

Molecular Genetics & Genomic Medicine, John Wiley & Sons 2018, Vol. 6, (6) : 887-897

Rawcliffe, Denise F. R.; Österman, Lennart; Nordin, Angelica; et al.

Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: a large multinational screening study

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 18, (3-4) : 256-264

Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; et al.

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

Human Molecular Genetics, Vol. 24, (11) : 3133-3142

Nordin, Angelica; Akimoto, Chizuru; Wuolikainen, Anna; et al.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Journal of Medical Genetics, Vol. 51, (6) : 419-424

Akimoto, Chizuru; Volk, Alexander E.; van Blitterswijk, Marka; et al.

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be de-repressed by IGF2BP1

Human Mutation, Vol. 33, (3) : 467-470

Nordin, Angelica; Larsson, Elin; Holmberg, Monica

Genetic and functional studies of hereditary myopathy with lactic acidosis

Umeå University medical dissertations, 1454

Nordin, Angelica

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice

Human Genetics, Vol. 129, (4) : 371-378

Nordin, Angelica; Larsson, Elin; Thornell, Lars-Eric; et al.

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

Human Molecular Genetics, Vol. 17, (11) : 1666-1672

Olsson, Angelica; Lind, Lisbet; Thornell, Lars-Eric; et al.

Visa publikationer i DiVA

Forskargrupper

Gruppmedlem

ALS forskning i Umeå

Peter Andersen