Publications 2025

Christophersen IE, De Waele J, Km A, S H, Backe PH, Kulseth MA, Mero IL, Bosmans F (2025)
A new loss-of-function variant in SCN1A is associated with early-onset complex febrile seizures
131, 378-381
DOI 10.1016/j.seizure.2025.08.010, PubMed 40834683

Hellum M, Sletten M, Le MS, Stavseth V, Glosli H, Backe PH, Iversen N, Henriksson CE (2025)
Characterization of a novel factor X variant, p.F139L, associated with bleedings in heterozygous and compound heterozygous form
253, 109412
DOI 10.1016/j.thromres.2025.109412, PubMed 40763424

Publications 2024

Rustad CF, Backe PH, Jin C, Merckoll E, Tveten K, Maciej-Hulme ML, Karlsson N, Prescott T, Sand ES, Woldseth B, Elgstøen KBP, Holla ØL (2024)
A monoallelic UXS1 variant associated with short-limbed short stature
12 (6), e2472
DOI 10.1002/mgg3.2472, PubMed 38860481

Publications 2023

Radenkovic S, Laerdahl JK, Backe PH, Morava E (2023)
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?
46 (2), 159-160
DOI 10.1002/jimd.12601, PubMed 36843136

Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S et al. (2023)
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening
146 (7), 3003-3013
DOI 10.1093/brain/awad010, PubMed 36729635

Publications 2022

Liu X, Risbakk S, Carvalho PA, Yang M, Backe PH, Bjørås M, Norby T, Chatzitakis A (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

Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D (2022)
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
145 (7), 2602-2616
DOI 10.1093/brain/awac034, PubMed 35104841

Ørstavik K, Arntzen KA, Mathisen P, Backe PH, Tangeraas T, Rasmussen M, Kristensen E, Van Ghelue M, Jonsrud C, Bliksrud YT (2022)
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency
63 (3), 193-198
DOI 10.1002/jmd2.12276, PubMed 35433169

Publications 2021

Ahmadi A, Till K, Backe PH, Blicher P, Diekmann R, Schüttpelz M, Glette K, Tørresen J, Bjørås M, Rowe AD, Dalhus B (2021)
Non-flipping DNA glycosylase AlkD scans DNA without formation of a stable interrogation complex
4 (1), 876
DOI 10.1038/s42003-021-02400-x, PubMed 34267321

Andersen E, Chollet ME, Sletten M, Stavik B, Skarpen E, Backe PH, Thiede B, Glosli H, Henriksson CE, Iversen N (2021)
Molecular Characterization of Two Homozygous Factor VII Variants Associated with Intracranial Bleeding
121 (12), 1588-1598
DOI 10.1055/a-1450-8568, PubMed 33742435

Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (2021)
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757

Xu KQ, Chatzitakis A, Backe PH, Ruan QS, Tang JW, Rise F, Bjoras M, Norby T (2021)
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

Xu KQ, Chatzitakis A, Risbakk S, Yang MY, Backe PH, Grandcolas M, Bjoras M, Norby T (2021)
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

Backe PH, Laerdahl JK, Kittelsen LS, Dalhus B, Mørkrid L, Bjørås M (2020)
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-D-phosphohexomutase superfamily
10 (1), 5656
DOI 10.1038/s41598-020-62548-0, PubMed 32221390

Publications 2019

Andersen TCB, Kristiansen PE, Huszenicza Z, Johansson MU, Gopalakrishnan RP, Kjelstrup H, Boyken S, Sundvold-Gjerstad V, Granum S, Sørli M, Backe PH, Fulton DB, Karlsson BG, Andreotti AH, Spurkland A (2019)
The SH3 domains of the protein kinases ITK and LCK compete for adjacent sites on T cell-specific adapter protein
294 (42), 15480-15494
DOI 10.1074/jbc.RA119.008318, PubMed 31484725

Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019)
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471

Xu K, Chatzitakis A, Risbakk S, Yang M, Backe PH, Grandcolas M, Bjørås M, Norby T (2019)
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

Bosshard M, Aprigliano R, Gattiker C, Palibrk V, Markkanen E, Backe PH, Pellegrino S, Raymond FL, Froyen G, Altmeyer M, Bjørås M, Dianov GL, Loon BV (2018)
Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
8 (1), 6010
DOI 10.1038/s41598-018-24189-2, PubMed 29651030

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH et al. (2018)
Biallelic variants in KIF14 cause intellectual disability with microcephaly
26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805

Publications 2017

Bosshard M, Aprigliano R, Gattiker C, Palibrk V, Markkanen E, Backe PH, Pellegrino S, Raymond FL, Froyen G, Altmeyer M, Bjørås M, Dianov GL, van Loon B (2017)
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability
7 (1), 15050
DOI 10.1038/s41598-017-15380-y, PubMed 29118367

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
26 (6), 1031-1040
DOI 10.1093/hmg/ddw391, PubMed 28007905

Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK (2017)
Novel UCHL1 mutations reveal new insights into ubiquitin processing
26 (6), 1217-1218
DOI 10.1093/hmg/ddx072, PubMed 28334853

Publications 2016

Jaradat SA, Al-Qa'qa' K, Amayreh W, Backe PH, Al-Hawamdeh A, Karam M, Alzoubi B, Deebajah H, Al Rababah B (2016)
Molecular analysis of maple syrup urine disease in Jordanian families
Meta Gene, 10, 81-85
DOI 10.1016/j.mgene.2015.10.002

Jaradat SA, Jubran B, Alzoubi F, Backe PH, Bader HM, Haddad H (2016)
Molecular Analysis of the GJB2 Gene in Iraqi Patients with Sensorineural Non-Syndromic Hearing Loss
Jordan Medical Journal, 50 (3), 145-155
PublikaID 236

Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283

Publications 2015

Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015)
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232

Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI (2015)
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
161 (2), 366-72
DOI 10.1016/j.clim.2015.10.002, PubMed 26482871

Publications 2014

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Yang M, Luna L, Sørbø JG, Alseth I, Johansen RF, Backe PH, Danbolt NC, Eide L, Bjørås M (2014)
Human OXR1 maintains mitochondrial DNA integrity and counteracts hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21
77, 41-8
DOI 10.1016/j.freeradbiomed.2014.09.003, PubMed 25236744

Publications 2013

Backe PH, Simm R, Laerdahl JK, Dalhus B, Fagerlund A, Okstad OA, Rognes T, Alseth I, Kolstø AB, Bjørås M (2013)
A new family of proteins related to the HEAT-like repeat DNA glycosylases with affinity for branched DNA structures
183 (1), 66-75
DOI 10.1016/j.jsb.2013.04.007, PubMed 23623903

Backe PH, Ytre-Arne M, Røhr AK, Brodtkorb E, Fowler B, Rootwelt H, Bjørås M, Mørkrid L (2013)
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
11, 79-85
DOI 10.1007/8904_2013_225, PubMed 23580368

Publications 2012

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H (2012)
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene
72 (5), 369-73
DOI 10.3109/00365513.2012.676210, PubMed 22554029

Hereng TH, Backe PH, Kahmann J, Scheich C, Bjørås M, Skålhegg BS, Rosendal KR (2012)
Structure and function of the human sperm-specific isoform of protein kinase A (PKA) catalytic subunit Cα2
178 (3), 300-10
DOI 10.1016/j.jsb.2012.03.013, PubMed 22504716

Payne CM, Baban J, Horn SJ, Backe PH, Arvai AS, Dalhus B, Bjørås M, Eijsink VG, Sørlie M, Beckham GT, Vaaje-Kolstad G (2012)
Hallmarks of processivity in glycoside hydrolases from crystallographic and computational studies of the Serratia marcescens chitinases
287 (43), 36322-30
DOI 10.1074/jbc.M112.402149, PubMed 22952223

Ranneberg-Nilsen T, Rollag H, Slettebakk R, Backe PH, Olsen Ø, Luna L, Bjørås M (2012)
The chromatin remodeling factor SMARCB1 forms a complex with human cytomegalovirus proteins UL114 and UL44
7 (3), e34119
DOI 10.1371/journal.pone.0034119, PubMed 22479537

Søberg K, Larsen AC, Diskar M, Backe PH, Bjørås M, Jahnsen T, Laerdahl JK, Rognes T, Herberg FW, Skålhegg BS (2012)
Identification and characterization of novel mutations in the human gene encoding the catalytic subunit Calpha of protein kinase A (PKA)
7 (4), e34838
DOI 10.1371/journal.pone.0034838, PubMed 22514673

Publications 2011

Dalhus B, Forsbring M, Helle IH, Vik ES, Forstrøm RJ, Backe PH, Alseth I, Bjørås M (2011)
Separation-of-function mutants unravel the dual-reaction mode of human 8-oxoguanine DNA glycosylase
19 (1), 117-27
DOI 10.1016/j.str.2010.09.023, PubMed 21220122

Publications 2010

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L (2010)
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
100 (4), 324-32
DOI 10.1016/j.ymgme.2010.04.017, PubMed 20570198

Gorbitz CH, Backe PH (2010)
L-Isoleucyl-L-asparagine 1.094-hydrate: a hybrid hydrogen-bonding pattern
Acta Crystallogr. Sect. C-Struct. Chem., 66, O349-O352
DOI 10.1107/S0108270110020895

Publications 2009

Dalhus B, Arvai AS, Rosnes I, Olsen ØE, Backe PH, Alseth I, Gao H, Cao W, Tainer JA, Bjørås M (2009)
Structures of endonuclease V with DNA reveal initiation of deaminated adenine repair
16 (2), 138-43
DOI 10.1038/nsmb.1538, PubMed 19136958

Dalhus B, Laerdahl JK, Backe PH, Bjørås M (2009)
DNA base repair--recognition and initiation of catalysis
33 (6), 1044-78
DOI 10.1111/j.1574-6976.2009.00188.x, PubMed 19659577

Publications 2007

Dalhus B, Helle IH, Backe PH, Alseth I, Rognes T, Bjørås M, Laerdahl JK (2007)
Structural insight into repair of alkylated DNA by a new superfamily of DNA glycosylases comprising HEAT-like repeats
35 (7), 2451-9
DOI 10.1093/nar/gkm039, PubMed 17395642

Publications 2004

Backe PH (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

Publications 1995

Backe PH (1995)
Røntgenkrystallografisk strukturbestemmelse av dipeptidene L-valyl-L-glutamin og L-glutamyl-L-valin
P.H. Backe, Oslo, 77 s.
BIBSYS 952041936