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Umeå University
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Monica Holmberg

Contact

E-mail
monica.holmberg@umu.se
Phone
+46 72 209 34 19

Works as

Affiliation
Professor at Department of Medical Biosciences Section: Medical and Clinical Genetics Role: Deputy head of department, Head of unit, Assistant head of department
Location
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.
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
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 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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