Paul Hoff Backe
- Research scientist; PhD
- p.h.backe@medisin.uio.no
Publications 2024
A monoallelic UXS1 variant associated with short-limbed short stature
Mol Genet Genomic Med, 12 (6), e2472
DOI 10.1002/mgg3.2472, PubMed 38860481
Publications 2023
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?
J Inherit Metab Dis, 46 (2), 159-160
DOI 10.1002/jimd.12601, PubMed 36843136
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
Brain, 146 (7), 3003-3013
DOI 10.1093/brain/awad010, PubMed 36729635
Publications 2022
Immobilization of FeFe-hydrogenase on black TiO2 nanotubes as biocathodes for the hydrogen evolution reaction
Electrochemistry Communications, 135, 107221
DOI 10.1016/j.elecom.2022.107221, PublikaID 419
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Brain, 145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
JIMD Rep, 63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169
Publications 2021
Non-flipping DNA glycosylase AlkD scans DNA without formation of a stable interrogation complex
Commun Biol, 4 (1), 876
DOI 10.1038/s42003-021-02400-x, PubMed 34267321
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
Thromb Haemost, 121 (12), 1588-1598
DOI 10.1055/a-1450-8568, PubMed 33742435
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum Mol Genet, 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757
In situ cofactor regeneration enables selective CO2 reduction in a stable and efficient enzymatic photoelectrochemical cell
Appl. Catal. B-Environ., 296, 120349
DOI 10.1016/j.apcatb.2021.120349
High performance and toxicity assessment of Ta3N5 nanotubes for photoelectrochemical water splitting
Catal. Today, 361, 57-62
DOI 10.1016/j.cattod.2019.12.031
Publications 2020
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily
Sci Rep, 10 (1), 5656
DOI 10.1038/s41598-020-62548-0, PubMed 32221390
Publications 2019
The SH3 domains of the protein kinases ITK and LCK compete for adjacent sites on T cell-specific adapter protein
J Biol Chem, 294 (42), 15480-15494
DOI 10.1074/jbc.RA119.008318, PubMed 31484725
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471
High performance and toxicity assessment of Ta3N5 nanotubes for photoelectrochemical water splitting
Catalysis Today, 0, 1-6 (in press)
DOI 10.1016/j.cattod.2019.12.031, PublikaID 337
Publications 2018
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
Sci Rep, 8 (1), 6010
DOI 10.1038/s41598-018-24189-2, PubMed 29651030
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Eur J Hum Genet, 26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805
Publications 2017
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
Sci Rep, 7 (1), 15050
DOI 10.1038/s41598-017-15380-y, PubMed 29118367
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905
Novel UCHL1 mutations reveal new insights into ubiquitin processing
Hum Mol Genet, 26 (6), 1217-1218
DOI 10.1093/hmg/ddx072, PubMed 28334853
Publications 2016
Molecular analysis of maple syrup urine disease in Jordanian families
Meta Gene, 10, 81-85
DOI 10.1016/j.mgene.2015.10.002
Molecular Analysis of the GJB2 Gene in Iraqi Patients with Sensorineural Non-Syndromic Hearing Loss
Jordan Medical Journal, 50 (3), 145-155
PublikaID 236
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283
Publications 2015
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Eur J Med Genet, 58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
Clin Immunol, 161 (2), 366-72
DOI 10.1016/j.clim.2015.10.002, PubMed 26482871
Publications 2014
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394
Human OXR1 maintains mitochondrial DNA integrity and counteracts hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21
Free Radic Biol Med, 77, 41-8
DOI 10.1016/j.freeradbiomed.2014.09.003, PubMed 25236744
Publications 2013
A new family of proteins related to the HEAT-like repeat DNA glycosylases with affinity for branched DNA structures
J Struct Biol, 183 (1), 66-75
DOI 10.1016/j.jsb.2013.04.007, PubMed 23623903
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
JIMD Rep, 11, 79-85
DOI 10.1007/8904_2013_225, PubMed 23580368
Publications 2012
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene
Scand J Clin Lab Invest, 72 (5), 369-73
DOI 10.3109/00365513.2012.676210, PubMed 22554029
Structure and function of the human sperm-specific isoform of protein kinase A (PKA) catalytic subunit Cα2
J Struct Biol, 178 (3), 300-10
DOI 10.1016/j.jsb.2012.03.013, PubMed 22504716
Hallmarks of processivity in glycoside hydrolases from crystallographic and computational studies of the Serratia marcescens chitinases
J Biol Chem, 287 (43), 36322-30
DOI 10.1074/jbc.M112.402149, PubMed 22952223
The chromatin remodeling factor SMARCB1 forms a complex with human cytomegalovirus proteins UL114 and UL44
PLoS One, 7 (3), e34119
DOI 10.1371/journal.pone.0034119, PubMed 22479537
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA)
PLoS One, 7 (4), e34838
DOI 10.1371/journal.pone.0034838, PubMed 22514673
Publications 2011
Separation-of-function mutants unravel the dual-reaction mode of human 8-oxoguanine DNA glycosylase
Structure, 19 (1), 117-27
DOI 10.1016/j.str.2010.09.023, PubMed 21220122
Publications 2010
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
Mol Genet Metab, 100 (4), 324-32
DOI 10.1016/j.ymgme.2010.04.017, PubMed 20570198
L-isoleucyl-L-asparagine 1.094-hydrate: a hybrid hydrogen-bonding pattern
Acta Crystallogr C, 66 (Pt 7), o349-52
DOI 10.1107/S0108270110020895, PubMed 20603563
Publications 2009
Structures of endonuclease V with DNA reveal initiation of deaminated adenine repair
Nat Struct Mol Biol, 16 (2), 138-43
DOI 10.1038/nsmb.1538, PubMed 19136958
DNA base repair--recognition and initiation of catalysis
FEMS Microbiol Rev, 33 (6), 1044-78
DOI 10.1111/j.1574-6976.2009.00188.x, PubMed 19659577
Publications 2007
Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats
Nucleic Acids Res, 35 (7), 2451-9
DOI 10.1093/nar/gkm039, PubMed 17395642
Publications 2005
X-ray crystallographic and NMR studies of the third KH domain of hnRNP K in complex with single-stranded nucleic acids
Structure, 13 (7), 1055-67
DOI 10.1016/j.str.2005.04.008, PubMed 16004877
Publications 2004
Nucleic acid recognition by the third KH domain of hnRNP K
In Series of dissertations submitted to the Faculty of Mathematics and Natural Sciences, University of Oslo, The Faculty, Oslo, no. 386, 1 b. (flere pag.)
BIBSYS 042446325
Crystallization, microPIXE and preliminary crystallographic analysis of the complex between the third KH domain of hnRNP K and single-stranded DNA
Acta Crystallogr D Biol Crystallogr, 60 (Pt 4), 784-7
DOI 10.1107/S0907444904002628, PubMed 15039586
Publications 1995
Røntgenkrystallografisk strukturbestemmelse av dipeptidene L-valyl-L-glutamin og L-glutamyl-L-valin
P.H. Backe, Oslo, 77 s.
BIBSYS 952041936