% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Komlosi:289653,
      author       = {K. Komlosi and C. Glocker and H.-H. Hsu-Rehder and S. Alter
                      and J. Kopp and A. Hotz and A. D. Zimmer and I.
                      Hausser-Siller and R. Sandhoff$^*$ and V. Oji and J.
                      Fischer},
      title        = {{A}utosomal dominant lamellar ichthyosis due to a missense
                      mutation in the gene {NKPD}1.},
      journal      = {The journal of investigative dermatology},
      volume       = {144},
      number       = {12},
      issn         = {0022-202X},
      address      = {Amsterdam},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2024-00835},
      pages        = {2754-2763.e6},
      year         = {2024},
      note         = {Volume 144, Issue 12, December 2024, Pages 2754-2763.e6},
      abstract     = {The identification of monogenic causes for cornification
                      disorders has enhanced our understanding of epidermal
                      differentiation and skin barrier function. Autosomal
                      dominant lamellar ichthyosis (ADLI) is a rare condition, and
                      ASPRV1 was the only gene linked to ADLI to date. We
                      identified a heterozygous variant
                      (ENST00000686631.1:c.1372G>T, p.(Val458Phe)) in the NKPD1
                      gene in seven individuals from a four-generation German
                      pedigree with generalized lamellar ichthyosis by whole exome
                      sequencing. Segregation analysis confirmed its presence in
                      affected individuals, resulting in a LOD score of 3.31.
                      NKPD1 encodes the NTPase KAP Family P-Loop Domain-Containing
                      Protein 1, implicated in the plasma membrane, its role in
                      human disease is as yet unknown. Skin histology showed
                      moderate acanthosis and compact orthohyperkeratosis, and the
                      ultrastructure differed clearly from that in ASPRV1-ADLI.
                      While NKPD1 mRNA expression increased during keratinocyte
                      differentiation, stratum corneum ceramides exhibited no
                      significant changes. However, affected individuals showed an
                      elevated ratio of protein-bound ceramides to
                      omega-esterified ceramides. This highlights NKPD1's role in
                      ADLI, impacting ceramide metabolism and skin lipid barrier
                      formation, as demonstrated through functional
                      characterization.},
      keywords     = {Mendelian cornification disorders (Other) / NKPD1 (Other) /
                      NTPases (Other) / autosomal dominant lamellar ichthyosis
                      (Other) / non-syndromic autosomal dominant congenital
                      ichthyosis (Other) / whole exome sequencing (Other)},
      cin          = {A411},
      ddc          = {610},
      cid          = {I:(DE-He78)A411-20160331},
      pnm          = {311 - Zellbiologie und Tumorbiologie (POF4-311)},
      pid          = {G:(DE-HGF)POF4-311},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38642798},
      doi          = {10.1016/j.jid.2024.03.041},
      url          = {https://inrepo02.dkfz.de/record/289653},
}