Monica Holmberg

Professor i Medicinsk Genetik

Kontakt

072-209 34 19

Verksam vid

Professor vid Institutionen för medicinsk biovetenskap Enhet: Medicinsk och klinisk genetik Roll: Avdelningschef, Biträdande prefekt, Ställföreträdande prefekt

By 6M, vån 3, Sjukhusområdet Umeå universitet, 901 85 Umeå

EYS mutations and implementation of minigene assay for variant classification in EYS-associated retinitis pigmentosa in northern Sweden

Scientific Reports, Nature Publishing Group 2021, Vol. 11, (1)

Westin, Ida Maria; Jonsson, Frida; Österman, Lennart; et al.

ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A > G and c.5461-10T > C cause Stargardt disease due to defective splicing

Acta Ophthalmologica, John Wiley & Sons 2018, Vol. 96, (7) : 737-743

Jonsson, Frida; Westin, Ida Maria; Österman, Lennart; 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.

The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3

PLOS ONE, Public library science 2016, Vol. 11, (10)

Rawcliffe, Denise F. R.; Österman, Lennart; Lindsten, Hans; 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

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.

A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3

Neurogenetics, Heidelberg: Springer Berlin/Heidelberg 2011, Vol. 12, (2) : 137-143

Norgren, Nina; Mattson, Emma; Forsgren, Lars; et al.

A family with a hereditary form of torsion dystonia from northern Sweden treated with bilateral pallidal deep brain stimulation

Movement Disorders, Vol. 24, (16) : 2415-2419

Blomstedt, Patric; Hariz, Marwan I; Tisch, Stephen; et al.

Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF

Neurobiology of Disease, San Diego: Academic P. 2009, Vol. 33, (2) : 221-228

Larsson, Elin; Kuma, Regina; Norberg, Anna; et al.

A novel NGFB point mutation: a phenotype study of heterozygous patients

Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group Ltd 2009, Vol. 80, (2) : 188-195

Minde, Jan; Andersson, T; Fulford, M; 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.

Orthopedic aspects of familial insensitivity to pain due to a novel nerve growth factor beta mutation.

Acta Orthopaedica, Vol. 77, (2) : 198-202

Minde, Jan; Svensson, Olle; Holmberg, Monica; et al.

Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.

Neuroscience Letters, Vol. 396, (2) : 137-142

Norberg, Anna; Forsgren, Lars; Holmberg, Dan; et al.

Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice

Biochimica et Biophysica Acta, Vol. 1731, (3) : 149-153

Ström, Anna-Lena; Forsgren, Lars; Holmberg, Monica

A role for both wild-type and expanded ataxin-7 in transcriptional regulation

Neurobiology of Disease, Vol. 20, (3) : 646-655

Ström, Anna-Lena; Forsgren, Lars; Holmberg, Monica

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.

Human Molecular Genetics, Vol. 13, (8) : 799-805

Einarsdottir, Elisabet; Carlsson, Anna; Minde, Jan; et al.

The CTLA4 region as a general autoimmunity factor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease

European Journal of Human Genetics, Nature Publishing Group 2003, Vol. 11, (1) : 81-84

Einarsdottir, Elisabet; Söderström, Ingegerd; Löfgren-Burström, Anna; et al.

Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals

Acta Neuropathologica, Springer 2002, Vol. 104, (1) : 29-37

Jonasson, Jenni; Ström, Anna-Lena; Hart, Patricia; et al.

Purification and Characterization of the Nerve Growth Factor R221W mutant causing Insensitivity to Pain

Larsson, Elin; Fahey, Mark S.; Watson, Judy J.; et al.

HSAN V, a phenotype study of patients heterozygous for the NGFß-mutation

Minde, Jan; Fulford, M; Andersson, T; et al.

MBNL1 and RBM39 can activate the incorrect splicing of ISCU and the aberrant transcript is a target for nonsense-mediated decay

Rawcliffe, Denise F. R.; Johansson, Malin; Österman, Lennart; et al.

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Forskningsledare

Monica Holmbergs labb