Per Dahlqvist - Academia.edu (original) (raw)

Papers by Per Dahlqvist

Endocrine connections, 2023

Text length: 4321 No. of references: 45 No. of graphics: 7 (2 tables and 5 figures) Supplementary... more Text length: 4321 No. of references: 45 No. of graphics: 7 (2 tables and 5 figures) Supplementary graphics: 3 (1 table and 2 figures)

Research Square (Research Square), Sep 15, 2020

Please charge to my credit card २ American Express २ Diners २ MasterCard २ Visa Card No.: Exp. da... more Please charge to my credit card २ American Express २ Diners २ MasterCard २ Visa Card No.: Exp. date: CVV/CVC (3 digits in the signature fi eld on the back of Visa and MasterCard) २ Check enclosed २ Please bill me Orders may be placed with any bookshop, subscription agency, directly with the publisher or through a Karger distributor.

The Journal of Clinical Endocrinology and Metabolism, Nov 24, 2020

Context: Oral once-daily dual-release hydrocortisone (DR-HC) replacement therapy has demonstrated... more Context: Oral once-daily dual-release hydrocortisone (DR-HC) replacement therapy has demonstrated an improved metabolic profile compared to conventional 3-times-daily (TID-HC) therapy among patients with primary adrenal insufficiency. This effect might be related to a more physiological cortisol profile, but also to a modified pattern of cortisol metabolism. Objective: This work aimed to study cortisol metabolism during DR-HC and TID-HC. Design: A randomized, 12-week, crossover study was conducted.

European Journal of Endocrinology

Objective Data on pre- and postoperative pituitary function in nonfunctioning pituitary adenomas ... more Objective Data on pre- and postoperative pituitary function in nonfunctioning pituitary adenomas (NFPA) are not consistent. We aimed to investigate pituitary function before and up to 5 years after transsphenoidal surgery with emphasis on the hypothalamic-pituitary-adrenal axis (HPA). Design and methods Data from the Swedish Pituitary Register was used to analyze anterior pituitary function in 838 patients with NFPA diagnosed between 1991 and 2014. Patients who were reoperated or had received radiotherapy were excluded. Results Preoperative ACTH, TSH, LH/FSH, and GH deficiencies were reported in 31% (236/755), 39% (300/769), 51% (378/742), and 28% (170/604) of the patients, respectively. Preoperative median tumor volume was 5.0 (2.4-9.0) cm3. Among patients with preoperative, 1 year and 5 years postoperative data on the HPA axis (n = 428), 125 (29%) were ACTH-deficient preoperatively. One year postoperatively, 26% (32/125) of them had recovered ACTH function while 23% (70/303) patie...

The Journal of Clinical Endocrinology & Metabolism

Purpose To describe the clinical presentation and treatment outcomes in a nationwide cohort of pa... more Purpose To describe the clinical presentation and treatment outcomes in a nationwide cohort of patients with giant prolactinomas. Methods Register-based study of patients with giant prolactinomas [serum prolactin (PRL) > 1000 µg/L, tumor diameter ≥40 mm] identified in the Swedish Pituitary Register 1991-2018. Results Eighty-four patients [mean age 47 (SD ±16) years, 89% men] were included in the study. At diagnosis, the median PRL was 6305 µg/L (range 1450-253 000), the median tumor diameter was 47 mm (range 40-85), 84% of the patients had hypogonadotropic hypogonadism, and 71% visual field defects. All patients were treated with a dopamine agonist (DA) at some point. Twenty-three (27%) received 1 or more additional therapies, including surgery (n = 19), radiotherapy (n = 6), other medical treatments (n = 4), and chemotherapy (n = 2). Ki-67 was ≥10% in 4/14 tumors. At the last follow-up [median 9 years (interquartile range (IQR) 4-15)], the median PRL was 12 µg/L (IQR 4-126), and...

Journal of Clinical Medicine

Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of pa... more Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of patients with autoimmune Addison’s disease (AAD). Here, we set out to explore any influence of RAF on the levels of plasma metanephrines and any changes following stimulation with cosyntropin. Methods: We included 50 patients with verified RAF and 20 patients without RAF who served as controls upon cosyntropin stimulation testing. The patients had abstained from glucocorticoid and fludrocortisone replacement > 18 and 24 h, respectively, prior to morning blood sampling. The samples were obtained before and 30 and 60 min after cosyntropin stimulation and analyzed for serum cortisol, plasma metanephrine (MN), and normetanephrine (NMN) by liquid-chromatography tandem-mass pectrometry (LC-MS/MS). Results: Among the 70 patients with AAD, MN was detectable in 33%, 25%, and 26% at baseline, 30 min, and 60 min after cosyntropin stimulation, respectively. Patients with RAF were more likely to hav...

Frontiers in Endocrinology

BackgroundDiagnosing endogenous hypercortisolism remains a challenge, partly due to a lack of bio... more BackgroundDiagnosing endogenous hypercortisolism remains a challenge, partly due to a lack of biochemical tests with good diagnostic accuracy.ObjectivesTo evaluate the diagnostic value of salivary cortisol and cortisone in patients with suspected hypercortisolism.MethodsRetrospective study including 155 patients with adrenal incidentaloma, and 54 patients with suspected Cushing´s syndrome (CS). Salivary samples were collected at home, at 11 p.m., and at 8 a.m. following an over-night dexamethasone suppression test (DST). Salivary cortisol and cortisone were measured with liquid chromatography-tandem mass spectrometry.ResultsTen of 155 patients with adrenal incidentaloma were considered to have autonomous cortisol secretion (ACS). Using previously established cut-offs, all patients with ACS had elevated plasma-cortisol (>50 nmol/L) following DST, 9/10 had elevated late-night salivary cortisone (>15 nmol/L) whereas only 4/10 had elevated late-night salivary cortisol (LNSC; >3...

Endocrine Connections

Adrenal insufficiency is a life-threatening condition requiring chronic glucocorticoid replacemen... more Adrenal insufficiency is a life-threatening condition requiring chronic glucocorticoid replacement therapy, as well as stress adaptation to prevent adrenal crises. To increase patients’ self-sustainability, education on how to tackle an adrenal crisis is crucial. All patients should carry the European Emergency Card.

Journal of Internal Medicine, 2017

BackgroundEarly detection of autoimmune Addison's disease (AAD) is important as delay in diag... more BackgroundEarly detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life‐threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well‐described, but methodical investigations are scarce.ObjectivePerform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD.Material and MethodsA multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978–2016. Scrutiny of medical records provided patient data and laboratory values.ResultsLow sodium occurred in 207 of 247 (84%), but only one‐third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty‐three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Ser...

Clinical Chemistry and Laboratory Medicine, Apr 4, 2023

Endocrine Abstracts, May 2, 2023

European Journal of Endocrinology

Objective Autoimmune Addison's disease (AAD) entails a chronic adrenal insufficiency and is a... more Objective Autoimmune Addison's disease (AAD) entails a chronic adrenal insufficiency and is associated with an increased risk of severe infections. It is, however, unknown how patients with AAD were affected by the coronavirus disease 2019 (COVID-19) pandemic of 2020-2021. This study was aimed at investigating the incidence of COVID-19 in patients with AAD in Sweden, the self-adjustment of medications during the disease, impact on social aspects, and treatment during hospitalization. Additionally, we investigated if there were any possible risk factors for infection and hospitalization. Design and methods Questionnaires were sent out from April to October 2021 to 813 adult patients with AAD in the Swedish Addison Registry. The questionnaires included 55 questions inquiring about COVID-19 sickness, hospital care, medications, and comorbidities, focusing on the pre-vaccine phase. Results Among the 615 included patients with AAD, COVID-19 was reported in 17% of which 8.5% required ...

European Journal of Endocrinology

Läkartidningen, 2012

Traumatic Brain Injury (TBI) is one of the most common causes of death and disability among peopl... more Traumatic Brain Injury (TBI) is one of the most common causes of death and disability among people of working ages. Patients surviving severe TBI-accidents constitute an increasing part of today’s healthcare. In recent years it has been shown that 10-50 procent of the patients with severe traumatic brain injury have lesions in the pituitary-hypothalamic region. It is essential that these patients are evaluated for pituitary deficiency, so that replacement therapy can be initiated, and the rehabilitation process optimized. In this paper a proposal for the evaluation of the pituitary function in TBI-patients is presented, and simultaneously the TBI-concept is introduced to a broader part of the Swedish physicians.

Pituitary, 2019

Background Studies on the incidence of Cushing's disease (CD) are few and usually limited by a sm... more Background Studies on the incidence of Cushing's disease (CD) are few and usually limited by a small number of patients. The aim of this study was to assess the annual incidence in a nationwide cohort of patients with presumed CD in Sweden. Methods Patients registered with a diagnostic code for Cushing's syndrome (CS) or CD, between 1987 and 2013 were identified in the Swedish National Patient Registry. The CD diagnosis was validated by reviewing clinical, biochemical, imaging, and histopathological data. Results Of 1317 patients identified, 534 (41%) had confirmed CD. One-hundred-and-fifty-six (12%) patients had other forms of CS, 41 (3%) had probable but unconfirmed CD, and 334 (25%) had diagnoses unrelated to CS. The mean (95% confi

Journal of the Endocrine Society, 2022

Context Whether biochemical remission normalizes life expectancy in Cushing’s disease (CD) patien... more Context Whether biochemical remission normalizes life expectancy in Cushing’s disease (CD) patients remains unclear. Previous studies evaluating mortality in CD are limited by using the expected number of deaths in the background population instead of the actual number in matched controls. Objective and setting To study mortality by time-to-event analysis in an unselected nationwide CD patient cohort. Design and participants Longitudinal data from the Swedish Pituitary Register of 371 patients diagnosed with CD from 1991 to 2018 and information from the Swedish Cause of Death Register were evaluated. Four controls per patient (n = 1484) matched at the diagnosis date by age, sex, and residential area were included. Main outcome measures Mortality and causes of death. Results The median diagnosis age was 44 years (interquartile range 32-56), and the median follow-up was 10.6 years (5.7-18.0). At the 1-, 5-, 10-, 15-, and 20-year follow-ups, the remission rates were 80%, 92%, 96%, 91%,...

Endocrine Abstracts, 2018

Background ARMC5 has been identified as the gene responsible for PBMAH (primary bilateral macrono... more Background ARMC5 has been identified as the gene responsible for PBMAH (primary bilateral macronodular adrenal hyperplasia). ARMC5 inactivating mutations are reported in 20 to 25% of PBMAH patients. ARMC5 is considered as a tumor suppressor gene controlling apoptosis and regulating steroidogenesis. The mechanisms of action of ARMC5 are unknown. The structure of the ARMC5 protein contains ARM repeats and a BTB domain, patterns known to play a role in protein-protein interactions. Therefore identification of proteins that interact with ARMC5 and study of the mechanisms of this interaction will help to understand its function. By co-immunoprecipitation followed by mass spectrometry in HEK293 cells we identified a potential interaction between ARMC5 and Cullin3 (Cul3), also suggested in online databases and by 2 Hybrid Assay (Hu et al., 2017). Cul3 is a protein that mediates the ubiquitination process and subsequent degradation of specific protein substrates. Therefore, the aim of this study was to confirm this interaction and to investigate its mechanisms. Methods We used immunoprecipitation experiments with HA-tagged Cul3 and the bioluminescence resonance energy transfer (BRET) proximity assay in HEK293 cells in order to confirm and investigate the interaction of ARMC5 with Cul3. Results ARMC5 co-immunoprecipitated with HA-Cul3 and a hyperbolic BRET saturation curve was observed with YFP-Cul3 and ARMC5-Luc indicating a specific close proximity between these two proteins. We have also observed that a missense mutation in the BTB domain (p.L754P) of ARMC5 disrupts the interaction with Cul3. Altogether, these complementary approaches demonstrate that ARMC5 and Cul3 form a complex involving the BTB domain of ARMC5. Conclusion These data demonstrate that Cul3 is an ARMC5 partner. A likely direct interaction involves the BTB domain of ARMC5 and can be altered by pathogenic ARMC5 missense mutations. This suggests that ARMC5 participates in the ubiquitination process and open new perspectives in the pathophysiology of PBMAH.

Endocrine connections, 2023

Text length: 4321 No. of references: 45 No. of graphics: 7 (2 tables and 5 figures) Supplementary... more Text length: 4321 No. of references: 45 No. of graphics: 7 (2 tables and 5 figures) Supplementary graphics: 3 (1 table and 2 figures)

Research Square (Research Square), Sep 15, 2020

Please charge to my credit card २ American Express २ Diners २ MasterCard २ Visa Card No.: Exp. da... more Please charge to my credit card २ American Express २ Diners २ MasterCard २ Visa Card No.: Exp. date: CVV/CVC (3 digits in the signature fi eld on the back of Visa and MasterCard) २ Check enclosed २ Please bill me Orders may be placed with any bookshop, subscription agency, directly with the publisher or through a Karger distributor.

The Journal of Clinical Endocrinology and Metabolism, Nov 24, 2020

Context: Oral once-daily dual-release hydrocortisone (DR-HC) replacement therapy has demonstrated... more Context: Oral once-daily dual-release hydrocortisone (DR-HC) replacement therapy has demonstrated an improved metabolic profile compared to conventional 3-times-daily (TID-HC) therapy among patients with primary adrenal insufficiency. This effect might be related to a more physiological cortisol profile, but also to a modified pattern of cortisol metabolism. Objective: This work aimed to study cortisol metabolism during DR-HC and TID-HC. Design: A randomized, 12-week, crossover study was conducted.

European Journal of Endocrinology

Objective Data on pre- and postoperative pituitary function in nonfunctioning pituitary adenomas ... more Objective Data on pre- and postoperative pituitary function in nonfunctioning pituitary adenomas (NFPA) are not consistent. We aimed to investigate pituitary function before and up to 5 years after transsphenoidal surgery with emphasis on the hypothalamic-pituitary-adrenal axis (HPA). Design and methods Data from the Swedish Pituitary Register was used to analyze anterior pituitary function in 838 patients with NFPA diagnosed between 1991 and 2014. Patients who were reoperated or had received radiotherapy were excluded. Results Preoperative ACTH, TSH, LH/FSH, and GH deficiencies were reported in 31% (236/755), 39% (300/769), 51% (378/742), and 28% (170/604) of the patients, respectively. Preoperative median tumor volume was 5.0 (2.4-9.0) cm3. Among patients with preoperative, 1 year and 5 years postoperative data on the HPA axis (n = 428), 125 (29%) were ACTH-deficient preoperatively. One year postoperatively, 26% (32/125) of them had recovered ACTH function while 23% (70/303) patie...

The Journal of Clinical Endocrinology & Metabolism

Purpose To describe the clinical presentation and treatment outcomes in a nationwide cohort of pa... more Purpose To describe the clinical presentation and treatment outcomes in a nationwide cohort of patients with giant prolactinomas. Methods Register-based study of patients with giant prolactinomas [serum prolactin (PRL) > 1000 µg/L, tumor diameter ≥40 mm] identified in the Swedish Pituitary Register 1991-2018. Results Eighty-four patients [mean age 47 (SD ±16) years, 89% men] were included in the study. At diagnosis, the median PRL was 6305 µg/L (range 1450-253 000), the median tumor diameter was 47 mm (range 40-85), 84% of the patients had hypogonadotropic hypogonadism, and 71% visual field defects. All patients were treated with a dopamine agonist (DA) at some point. Twenty-three (27%) received 1 or more additional therapies, including surgery (n = 19), radiotherapy (n = 6), other medical treatments (n = 4), and chemotherapy (n = 2). Ki-67 was ≥10% in 4/14 tumors. At the last follow-up [median 9 years (interquartile range (IQR) 4-15)], the median PRL was 12 µg/L (IQR 4-126), and...

Journal of Clinical Medicine

Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of pa... more Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of patients with autoimmune Addison’s disease (AAD). Here, we set out to explore any influence of RAF on the levels of plasma metanephrines and any changes following stimulation with cosyntropin. Methods: We included 50 patients with verified RAF and 20 patients without RAF who served as controls upon cosyntropin stimulation testing. The patients had abstained from glucocorticoid and fludrocortisone replacement > 18 and 24 h, respectively, prior to morning blood sampling. The samples were obtained before and 30 and 60 min after cosyntropin stimulation and analyzed for serum cortisol, plasma metanephrine (MN), and normetanephrine (NMN) by liquid-chromatography tandem-mass pectrometry (LC-MS/MS). Results: Among the 70 patients with AAD, MN was detectable in 33%, 25%, and 26% at baseline, 30 min, and 60 min after cosyntropin stimulation, respectively. Patients with RAF were more likely to hav...

Frontiers in Endocrinology

BackgroundDiagnosing endogenous hypercortisolism remains a challenge, partly due to a lack of bio... more BackgroundDiagnosing endogenous hypercortisolism remains a challenge, partly due to a lack of biochemical tests with good diagnostic accuracy.ObjectivesTo evaluate the diagnostic value of salivary cortisol and cortisone in patients with suspected hypercortisolism.MethodsRetrospective study including 155 patients with adrenal incidentaloma, and 54 patients with suspected Cushing´s syndrome (CS). Salivary samples were collected at home, at 11 p.m., and at 8 a.m. following an over-night dexamethasone suppression test (DST). Salivary cortisol and cortisone were measured with liquid chromatography-tandem mass spectrometry.ResultsTen of 155 patients with adrenal incidentaloma were considered to have autonomous cortisol secretion (ACS). Using previously established cut-offs, all patients with ACS had elevated plasma-cortisol (>50 nmol/L) following DST, 9/10 had elevated late-night salivary cortisone (>15 nmol/L) whereas only 4/10 had elevated late-night salivary cortisol (LNSC; >3...

Endocrine Connections

Adrenal insufficiency is a life-threatening condition requiring chronic glucocorticoid replacemen... more Adrenal insufficiency is a life-threatening condition requiring chronic glucocorticoid replacement therapy, as well as stress adaptation to prevent adrenal crises. To increase patients’ self-sustainability, education on how to tackle an adrenal crisis is crucial. All patients should carry the European Emergency Card.

Journal of Internal Medicine, 2017

BackgroundEarly detection of autoimmune Addison's disease (AAD) is important as delay in diag... more BackgroundEarly detection of autoimmune Addison's disease (AAD) is important as delay in diagnosis may result in a life‐threatening adrenal crisis and death. The classical clinical picture of untreated AAD is well‐described, but methodical investigations are scarce.ObjectivePerform a retrospective audit of patient records with the aim of identifying biochemical markers for early diagnosis of AAD.Material and MethodsA multicentre retrospective study including 272 patients diagnosed with AAD at hospitals in Norway and Sweden during 1978–2016. Scrutiny of medical records provided patient data and laboratory values.ResultsLow sodium occurred in 207 of 247 (84%), but only one‐third had elevated potassium. Other common nonendocrine tests were largely normal. TSH was elevated in 79 of 153 patients, and hypoglycaemia was found in 10%. Thirty‐three per cent were diagnosed subsequent to adrenal crisis, in whom electrolyte disturbances were significantly more pronounced (P < 0.001). Ser...

Clinical Chemistry and Laboratory Medicine, Apr 4, 2023

Endocrine Abstracts, May 2, 2023

European Journal of Endocrinology

Objective Autoimmune Addison's disease (AAD) entails a chronic adrenal insufficiency and is a... more Objective Autoimmune Addison's disease (AAD) entails a chronic adrenal insufficiency and is associated with an increased risk of severe infections. It is, however, unknown how patients with AAD were affected by the coronavirus disease 2019 (COVID-19) pandemic of 2020-2021. This study was aimed at investigating the incidence of COVID-19 in patients with AAD in Sweden, the self-adjustment of medications during the disease, impact on social aspects, and treatment during hospitalization. Additionally, we investigated if there were any possible risk factors for infection and hospitalization. Design and methods Questionnaires were sent out from April to October 2021 to 813 adult patients with AAD in the Swedish Addison Registry. The questionnaires included 55 questions inquiring about COVID-19 sickness, hospital care, medications, and comorbidities, focusing on the pre-vaccine phase. Results Among the 615 included patients with AAD, COVID-19 was reported in 17% of which 8.5% required ...

European Journal of Endocrinology

Läkartidningen, 2012

Traumatic Brain Injury (TBI) is one of the most common causes of death and disability among peopl... more Traumatic Brain Injury (TBI) is one of the most common causes of death and disability among people of working ages. Patients surviving severe TBI-accidents constitute an increasing part of today’s healthcare. In recent years it has been shown that 10-50 procent of the patients with severe traumatic brain injury have lesions in the pituitary-hypothalamic region. It is essential that these patients are evaluated for pituitary deficiency, so that replacement therapy can be initiated, and the rehabilitation process optimized. In this paper a proposal for the evaluation of the pituitary function in TBI-patients is presented, and simultaneously the TBI-concept is introduced to a broader part of the Swedish physicians.

Pituitary, 2019

Background Studies on the incidence of Cushing's disease (CD) are few and usually limited by a sm... more Background Studies on the incidence of Cushing's disease (CD) are few and usually limited by a small number of patients. The aim of this study was to assess the annual incidence in a nationwide cohort of patients with presumed CD in Sweden. Methods Patients registered with a diagnostic code for Cushing's syndrome (CS) or CD, between 1987 and 2013 were identified in the Swedish National Patient Registry. The CD diagnosis was validated by reviewing clinical, biochemical, imaging, and histopathological data. Results Of 1317 patients identified, 534 (41%) had confirmed CD. One-hundred-and-fifty-six (12%) patients had other forms of CS, 41 (3%) had probable but unconfirmed CD, and 334 (25%) had diagnoses unrelated to CS. The mean (95% confi

Journal of the Endocrine Society, 2022

Context Whether biochemical remission normalizes life expectancy in Cushing’s disease (CD) patien... more Context Whether biochemical remission normalizes life expectancy in Cushing’s disease (CD) patients remains unclear. Previous studies evaluating mortality in CD are limited by using the expected number of deaths in the background population instead of the actual number in matched controls. Objective and setting To study mortality by time-to-event analysis in an unselected nationwide CD patient cohort. Design and participants Longitudinal data from the Swedish Pituitary Register of 371 patients diagnosed with CD from 1991 to 2018 and information from the Swedish Cause of Death Register were evaluated. Four controls per patient (n = 1484) matched at the diagnosis date by age, sex, and residential area were included. Main outcome measures Mortality and causes of death. Results The median diagnosis age was 44 years (interquartile range 32-56), and the median follow-up was 10.6 years (5.7-18.0). At the 1-, 5-, 10-, 15-, and 20-year follow-ups, the remission rates were 80%, 92%, 96%, 91%,...

Endocrine Abstracts, 2018

Background ARMC5 has been identified as the gene responsible for PBMAH (primary bilateral macrono... more Background ARMC5 has been identified as the gene responsible for PBMAH (primary bilateral macronodular adrenal hyperplasia). ARMC5 inactivating mutations are reported in 20 to 25% of PBMAH patients. ARMC5 is considered as a tumor suppressor gene controlling apoptosis and regulating steroidogenesis. The mechanisms of action of ARMC5 are unknown. The structure of the ARMC5 protein contains ARM repeats and a BTB domain, patterns known to play a role in protein-protein interactions. Therefore identification of proteins that interact with ARMC5 and study of the mechanisms of this interaction will help to understand its function. By co-immunoprecipitation followed by mass spectrometry in HEK293 cells we identified a potential interaction between ARMC5 and Cullin3 (Cul3), also suggested in online databases and by 2 Hybrid Assay (Hu et al., 2017). Cul3 is a protein that mediates the ubiquitination process and subsequent degradation of specific protein substrates. Therefore, the aim of this study was to confirm this interaction and to investigate its mechanisms. Methods We used immunoprecipitation experiments with HA-tagged Cul3 and the bioluminescence resonance energy transfer (BRET) proximity assay in HEK293 cells in order to confirm and investigate the interaction of ARMC5 with Cul3. Results ARMC5 co-immunoprecipitated with HA-Cul3 and a hyperbolic BRET saturation curve was observed with YFP-Cul3 and ARMC5-Luc indicating a specific close proximity between these two proteins. We have also observed that a missense mutation in the BTB domain (p.L754P) of ARMC5 disrupts the interaction with Cul3. Altogether, these complementary approaches demonstrate that ARMC5 and Cul3 form a complex involving the BTB domain of ARMC5. Conclusion These data demonstrate that Cul3 is an ARMC5 partner. A likely direct interaction involves the BTB domain of ARMC5 and can be altered by pathogenic ARMC5 missense mutations. This suggests that ARMC5 participates in the ubiquitination process and open new perspectives in the pathophysiology of PBMAH.