% 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{BrmovErtl:280909,
      author       = {Brémovà-Ertl, Tatiana and Tahirovic, Sabina and Katušić
                      Hećimović, Silva and Martakis, Kyriakos and Rohrbach,
                      Marianne and Gautschi, Matthias and Dhamija, Radhika and
                      Ganesh, Jaya and Peters, Melinda and Walterfang, Mark and
                      Schneider, Susanne A},
      title        = {{H}eterozygosity in {NPC} may be associated with neurologic
                      and systemic phenotypes.},
      journal      = {Frontiers in neurology},
      volume       = {16},
      issn         = {1664-2295},
      address      = {Lausanne},
      publisher    = {Frontiers Research Foundation},
      reportid     = {DZNE-2025-00992},
      pages        = {1618380},
      year         = {2025},
      abstract     = {Niemann-Pick disease type C (NPC) is a pan-ethnic,
                      progressive, recessively inherited lysosomal disorder that
                      affects 1:100,000 live births. Emerging biochemical,
                      genetic, and clinical evidence challenges the traditional
                      view that disease-associated variants in the genes
                      associated with the typical phenotype NPC manifest as an
                      exclusively autosomal recessive disorder. While biallelic
                      pathogenic variants cause the NPC disease phenotype,
                      heterozygous carriers may exhibit phenotypic traits
                      attributable to a partial loss of NPC1 or NPC2 function.We
                      conducted a literature search of articles relevant to
                      heterozygosity in NPC genes and genes associated with other
                      lysosomal diseases. A narrative mini-review format was
                      employed with the intention of providing a brief overview of
                      the frequency of NPC carriers, as well as the biochemical,
                      genetic, non-clinical, and clinical evidence available for
                      readers seeking to understand the scientific basis for why
                      NPC heterozygosity should be discussed and considered as a
                      potential risk factor for the development of neurological
                      phenotype or neurodegenerative diseases.Heterozygosity for
                      many genes, including NPC1 variants, ('carriers' of a single
                      variant in an NPC gene) can be clinically consequential.
                      Recognizing the effects of NPC1 heterozygosity has profound
                      implications for diagnosis, clinical monitoring, and
                      potential early intervention. By broadening our
                      understanding of the genetic and phenotypic spectrum of NPC,
                      we can improve detection (which is straightforward in
                      obligate heterozygotes, i.e., parents of NPC patients),
                      reduce long-term health risks, and utilize targeted
                      treatments that address the needs of carriers as well as
                      affected individuals.},
      subtyp        = {Review Article},
      keywords     = {Niemann-Pick disease type C (Other) / carrier (Other) /
                      heterozygosity (Other) / heterozygote (Other) / rare disease
                      (Other)},
      cin          = {AG Tahirovic},
      ddc          = {610},
      cid          = {I:(DE-2719)1140003},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40874127},
      pmc          = {pmc:PMC12378043},
      doi          = {10.3389/fneur.2025.1618380},
      url          = {https://pub.dzne.de/record/280909},
}