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Article ; Online: Quantitative phenotyping of

Buerger, Florian / Merz, Lea M / Saida, Ken / Yu, Seyoung / Salmanullah, Daanya / Lemberg, Katharina / Mertens, Nils D / Mansour, Bshara / Kolvenbach, Caroline M / Yousef, Kirollos / Hölzel, Selina / Braun, Alina / Franken, Gijs A C / Goncalves, Kevin A / Steinsapir, Andrew / Endlich, Nicole / Schneider, Ronen / Shril, Shirlee / Hildebrandt, Friedhelm

American journal of physiology. Renal physiology

2024 Volume 326, Issue 5, Page(s) F780–F791

Abstract: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded ... ...

Abstract	Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by
MeSH term(s)	Animals ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Phenotype ; Mice, Knockout ; Female ; Male ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/therapy ; Podocytes/metabolism ; Disease Models, Animal ; Genetic Therapy/methods ; Mice ; Genetic Vectors
Chemical Substances	Membrane Proteins ; nephrin
Language	English
Publishing date	2024-03-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	603837-2
ISSN	1522-1466 ; 0363-6127
ISSN (online)	1522-1466
ISSN	0363-6127
DOI	10.1152/ajprenal.00412.2023
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Article ; Online: Mechanisms coupling sodium and magnesium reabsorption in the distal convoluted tubule of the kidney.

Franken, Gijs A C / Adella, Anastasia / Bindels, René J M / de Baaij, Jeroen H F

Acta physiologica (Oxford, England)

2020 Volume 231, Issue 2, Page(s) e13528

Abstract: Hypomagnesaemia is a common feature of renal ... ...

Abstract	Hypomagnesaemia is a common feature of renal Na
MeSH term(s)	Biological Transport ; Humans ; Kidney Tubules, Distal/metabolism ; Magnesium/metabolism ; Sodium/metabolism ; Sodium Chloride Symporter Inhibitors
Chemical Substances	Sodium Chloride Symporter Inhibitors ; Sodium (9NEZ333N27) ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2020-07-26
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2218636-0
ISSN	1748-1716 ; 1748-1708
ISSN (online)	1748-1716
ISSN	1748-1708
DOI	10.1111/apha.13528
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Article ; Online: Diagnostic Dilemma in an Adolescent Girl with an Eating Disorder, Intellectual Disability, and Hypomagnesemia.

Bamhraz, Abdulaziz A / Franken, Gijs A C / de Baaij, Jeroen H F / Rodrigues, Allison / Grady, Rosheen / Deveau, Stephanie / Chanchlani, Rahul

Nephron

2021 Volume 145, Issue 6, Page(s) 717–720

Abstract: Neurological disorders, including seizures, migraine, depression, and intellectual disability, are frequently associated with hypomagnesemia. Specifically, magnesium (Mg2+) channel transient receptor potential melastatin (TRPM) 6 and TRPM7 are essential ... ...

Abstract	Neurological disorders, including seizures, migraine, depression, and intellectual disability, are frequently associated with hypomagnesemia. Specifically, magnesium (Mg2+) channel transient receptor potential melastatin (TRPM) 6 and TRPM7 are essential for brain function and development. Both channels are also localized in renal and intestinal epithelia and are crucial for Mg2+(re)absorption. Cyclin M2 (CNNM2) is located on the basolateral side of the distal convoluted tubule. In addition, it plays a role in the maintenance of plasma Mg2+ levels along with TRPM6, which is present at the apical level. The CNNM2 gene is crucial for renal magnesium handling, brain development, and neurological functioning. Here, we identified a novel mutation in the CNNM2 gene causing a cognitive delay in a girl with hypomagnesemia. We suggest testing for CNNM2 mutation in patients with neurological impairment and hypomagnesemia.
MeSH term(s)	Adolescent ; Cation Transport Proteins/genetics ; Feeding and Eating Disorders/diagnosis ; Feeding and Eating Disorders/genetics ; Female ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Renal Tubular Transport, Inborn Errors/complications ; Renal Tubular Transport, Inborn Errors/diagnosis ; Renal Tubular Transport, Inborn Errors/genetics
Chemical Substances	CNNM2 protein, human ; Cation Transport Proteins
Language	English
Publishing date	2021-08-19
Publishing country	Switzerland
Document type	Case Reports ; Journal Article
ZDB-ID	207121-6
ISSN	2235-3186 ; 1423-0186 ; 1660-8151 ; 0028-2766
ISSN (online)	2235-3186 ; 1423-0186
ISSN	1660-8151 ; 0028-2766
DOI	10.1159/000518173
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Article ; Online: Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

Bosman, Willem / Franken, Gijs A C / de Las Heras, Javier / Madariaga, Leire / Barakat, Tahsin Stefan / Oostenbrink, Rianne / van Slegtenhorst, Marjon / Perdomo-Ramírez, Ana / Claverie-Martín, Félix / van Eerde, Albertien M / Vargas-Poussou, Rosa / Dubourg, Laurence Derain / González-Recio, Irene / Martínez-Cruz, Luis Alfonso / de Baaij, Jeroen H F / Hoenderop, Joost G J

Scientific reports

2024 Volume 14, Issue 1, Page(s) 6917

Abstract: Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by ... ...

Abstract	Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg
MeSH term(s)	Humans ; Intellectual Disability/genetics ; Magnesium/metabolism ; Seizures/genetics ; Phenotype ; Cation Transport Proteins/genetics
Chemical Substances	Magnesium (I38ZP9992A) ; Cation Transport Proteins ; CNNM2 protein, human
Language	English
Publishing date	2024-03-22
Publishing country	England
Document type	Journal Article
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-024-57061-7
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Article ; Online: SLC41A1 knockout mice display normal magnesium homeostasis.

Ilenwabor, Barnabas P / Franken, Gijs A C / Sponder, Gerhard / Bos, Caro / Racay, Peter / Kolisek, Martin / Hoenderop, Joost G J / de Baaij, Jeroen H F

American journal of physiology. Renal physiology

2022 Volume 323, Issue 5, Page(s) F553–F563

Abstract: Transcellular ... ...

Abstract	Transcellular Mg
MeSH term(s)	Animals ; Mice ; Cations ; Cyclins/metabolism ; Homeostasis ; Kidney Tubules, Distal/metabolism ; Magnesium/metabolism ; Mice, Knockout ; Mice, Transgenic ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism ; Cation Transport Proteins/genetics
Chemical Substances	Cations ; Cyclins ; Magnesium (I38ZP9992A) ; TRPM Cation Channels ; Trpm7 protein, mouse (EC 2.7.1.-) ; Slc41a1 protein, mouse ; Cation Transport Proteins
Language	English
Publishing date	2022-09-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	603837-2
ISSN	1522-1466 ; 0363-6127
ISSN (online)	1522-1466
ISSN	0363-6127
DOI	10.1152/ajprenal.00101.2022
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Article ; Online: Cyclin M2 (CNNM2) knockout mice show mild hypomagnesaemia and developmental defects.

Franken, Gijs A C / Seker, Murat / Bos, Caro / Siemons, Laura A H / van der Eerden, Bram C J / Christ, Annabel / Hoenderop, Joost G J / Bindels, René J M / Müller, Dominik / Breiderhoff, Tilman / de Baaij, Jeroen H F

Scientific reports

2021 Volume 11, Issue 1, Page(s) 8217

Abstract: Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is under debate, the protein is considered essential for renal ... ...

Abstract	Patients with mutations in Cyclin M2 (CNNM2) suffer from hypomagnesaemia, seizures, and intellectual disability. Although the molecular function of CNNM2 is under debate, the protein is considered essential for renal Mg
MeSH term(s)	Animals ; Animals, Newborn ; Cation Transport Proteins/genetics ; Embryo, Mammalian ; Female ; Intellectual Disability/blood ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Magnesium/blood ; Magnesium Deficiency/blood ; Magnesium Deficiency/complications ; Magnesium Deficiency/genetics ; Magnesium Deficiency/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Pregnancy ; Seizures/blood ; Seizures/complications ; Seizures/genetics
Chemical Substances	Cation Transport Proteins ; Cnnm2 protein, mouse ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2021-04-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-87548-6
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Article ; Online: CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells.

Bai, Zhiyong / Feng, Jianlin / Franken, Gijs A C / Al'Saadi, Namariq / Cai, Na / Yu, Albert S / Lou, Liping / Komiya, Yuko / Hoenderop, Joost G J / de Baaij, Jeroen H F / Yue, Lixia / Runnels, Loren W

PLoS biology

2021 Volume 19, Issue 12, Page(s) e3001496

Abstract: Magnesium is essential for cellular life, but how it is homeostatically controlled still remains poorly understood. Here, we report that members of CNNM family, which have been controversially implicated in both cellular Mg2+ influx and efflux, ... ...

Abstract	Magnesium is essential for cellular life, but how it is homeostatically controlled still remains poorly understood. Here, we report that members of CNNM family, which have been controversially implicated in both cellular Mg2+ influx and efflux, selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells. Coexpression of CNNMs with the channel markedly increased uptake of divalent cations, which is prevented by an inactivating mutation to the channel's pore. Knockout (KO) of TRPM7 in cells or application of the TRPM7 channel inhibitor NS8593 also interfered with CNNM-stimulated divalent cation uptake. Conversely, KO of CNNM3 and CNNM4 in HEK-293 cells significantly reduced TRPM7-mediated divalent cation entry, without affecting TRPM7 protein expression or its cell surface levels. Furthermore, we found that cellular overexpression of phosphatases of regenerating liver (PRLs), known CNNMs binding partners, stimulated TRPM7-dependent divalent cation entry and that CNNMs were required for this activity. Whole-cell electrophysiological recordings demonstrated that deletion of CNNM3 and CNNM4 from HEK-293 cells interfered with heterologously expressed and native TRPM7 channel function. We conclude that CNNMs employ the TRPM7 channel to mediate divalent cation influx and that CNNMs also possess separate TRPM7-independent Mg2+ efflux activities that contribute to CNNMs' control of cellular Mg2+ homeostasis.
MeSH term(s)	Cation Transport Proteins/metabolism ; Cation Transport Proteins/physiology ; Cations, Divalent/metabolism ; Cell Line, Tumor ; Cyclins/metabolism ; Cyclins/physiology ; HEK293 Cells ; Humans ; Magnesium/metabolism ; Patch-Clamp Techniques ; Protein Serine-Threonine Kinases/metabolism ; Protein Serine-Threonine Kinases/physiology ; TRPM Cation Channels/genetics ; TRPM Cation Channels/metabolism ; TRPM Cation Channels/physiology
Chemical Substances	CNNM3 protein, human ; CNNM4 protein, human ; Cation Transport Proteins ; Cations, Divalent ; Cyclins ; TRPM Cation Channels ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; TRPM7 protein, human (EC 2.7.11.1) ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2021-12-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2126776-5
ISSN	1545-7885 ; 1544-9173
ISSN (online)	1545-7885
ISSN	1544-9173
DOI	10.1371/journal.pbio.3001496
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Article: ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs

Zolotarov, Yevgen / Ma, Chao / González-Recio, Irene / Hardy, Serge / Franken, Gijs A. C. / Uetani, Noriko / Latta, Femke / Kostantin, Elie / Boulais, Jonathan / Thibault, Marie-Pier / Côté, Jean-François / Díaz-Moreno, Irene / Quintana, Antonio Díaz / Hoenderop, Joost G. J. / Martínez-Cruz, Luis Alfonso / Tremblay, Michel L. / de Baaij, Jeroen H. F.

Cellular and molecular life sciences. 2021 July, v. 78, no. 13

2021

Abstract: Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium (Mg²⁺) homeostasis. Using various biochemical approaches, we have identified members of the CNNM family as direct interacting partners of ADP-ribosylation factor-like GTPase 15 (ARL15), a ... ...

Abstract	Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium (Mg²⁺) homeostasis. Using various biochemical approaches, we have identified members of the CNNM family as direct interacting partners of ADP-ribosylation factor-like GTPase 15 (ARL15), a small GTP-binding protein. ARL15 interacts with CNNMs at their carboxyl-terminal conserved cystathionine-β-synthase (CBS) domains. In silico modeling of the interaction between CNNM2 and ARL15 supports that the small GTPase specifically binds the CBS1 and CNBH domains. Immunocytochemical experiments demonstrate that CNNM2 and ARL15 co-localize in the kidney, with both proteins showing subcellular localization in the endoplasmic reticulum, Golgi apparatus and the plasma membrane. Most importantly, we found that ARL15 is required for forming complex N-glycosylation of CNNMs. Overexpression of ARL15 promotes complex N-glycosylation of CNNM3. Mg²⁺ uptake experiments with a stable isotope demonstrate that there is a significant increase of ²⁵Mg²⁺ uptake upon knockdown of ARL15 in multiple kidney cancer cell lines. Altogether, our results establish ARL15 as a novel negative regulator of Mg²⁺ transport by promoting the complex N-glycosylation of CNNMs.
Keywords	Golgi apparatus ; computer simulation ; cyclins ; endoplasmic reticulum ; glycosylation ; guanosinetriphosphatase ; homeostasis ; kidney neoplasms ; kidneys ; magnesium ; neoplasm cells ; plasma membrane ; stable isotopes
Language	English
Dates of publication	2021-07
Size	p. 5427-5445.
Publishing place	Springer International Publishing
Document type	Article
ZDB-ID	1358415-7
ISSN	1420-9071 ; 1420-682X
ISSN (online)	1420-9071
ISSN	1420-682X
DOI	10.1007/s00018-021-03832-8
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Article ; Online: ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs.

Zolotarov, Yevgen / Ma, Chao / González-Recio, Irene / Hardy, Serge / Franken, Gijs A C / Uetani, Noriko / Latta, Femke / Kostantin, Elie / Boulais, Jonathan / Thibault, Marie-Pier / Côté, Jean-François / Díaz-Moreno, Irene / Quintana, Antonio Díaz / Hoenderop, Joost G J / Martínez-Cruz, Luis Alfonso / Tremblay, Michel L / de Baaij, Jeroen H F

Cellular and molecular life sciences : CMLS

2021 Volume 78, Issue 13, Page(s) 5427–5445

Abstract: Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium ( ... ...

Abstract	Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium (Mg
MeSH term(s)	ADP-Ribosylation Factors/genetics ; ADP-Ribosylation Factors/metabolism ; Biological Transport ; Cyclins/genetics ; Cyclins/metabolism ; Glycosylation ; HEK293 Cells ; Homeostasis ; Humans ; Magnesium/metabolism ; Models, Molecular ; Protein Binding
Chemical Substances	CNNM3 protein, human ; Cyclins ; ADP-Ribosylation Factors (EC 3.6.5.2) ; ARL15 protein, human (EC 3.6.5.2) ; Magnesium (I38ZP9992A)
Language	English
Publishing date	2021-06-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	1358415-7
ISSN	1420-9071 ; 1420-682X
ISSN (online)	1420-9071
ISSN	1420-682X
DOI	10.1007/s00018-021-03832-8
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Article ; Online: The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Human mutation

2021 Volume 42, Issue 4, Page(s) 473–486

Abstract: Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, ... ...

Abstract	Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hindering early recognition of patients. In this study, we established the largest cohort of HSMR to date, aiming to improve recognition and diagnosis of this complex disorder. Eleven novel variants in CNNM2 were identified in nine single sporadic cases and in two families with suspected HSMR syndrome.
MeSH term(s)	Cation Transport Proteins/genetics ; Cyclins/genetics ; Heterozygote ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Mutation ; Phenotype
Chemical Substances	CNNM2 protein, human ; Cation Transport Proteins ; Cyclins
Language	English
Publishing date	2021-03-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1126646-6
ISSN	1098-1004 ; 1059-7794
ISSN (online)	1098-1004
ISSN	1059-7794
DOI	10.1002/humu.24182
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