Portrait of Nikolaus Braun 1932 Portraits Men

LBI

Harry Bergholz Collection 1938-1980

Correspondence between Harry Bergholz and Hermann Ascher (1938-1969), Genia Einzig (1946-1958), Norbert Gebel (1956-1980), and Richard Hessberg (1947-1958).

Synagogue at Geistgasse; Prague Synagogues

Versus: Neuer israel. Tempel Prag, Geistgasse

Portrait of Jacob Picard in military uniform Military; Portraits

Digital Image

Studio portrait of Cora Berliner with her mother and sister; Hannover Portraits Family

Digital Image

Members of Chewra Kadischa (Burial Society) of the Klaus Synagogue, Mannheim, taken one day before the November Pogrom (Kristallnacht) Portraits; Groups; Men

Digital Image

Martin Riesenburger portrait portraits men

Martin Riesenburger (May 14, 1896 – Apr. 14, 1966) was Prediger (Preacher) for the Jewish community in Berlin-Weissensee throughout the Nazi era (protected by his gentile wife, Natalie Riesenburger). In 1953 he became Rabbi of the Jewish community in Berlin (East) and then Landesrabbiner of the German Democratic Republic.

Fritz Gottschalk and his children boating on a mountain lake; Titisee, Germany.

From left to right: Ursula, Walter, Hal, Kurt, Fritz, and Elizabeth Gottschalk; the lake is probably the Titisee near the Swiss border in the Black Forest, Germany

Molecular genetic studies on nemaline myopathy and related disorders

Nemaline myopathy (NM) is a rare muscle disorder characterised by muscle weakness and nemaline bodies in striated muscle tissue. Nemaline bodies are derived from sarcomeric Z discs and may be detected by light microscopy. The disease can be divided into six subclasses varying from very severe, in some cases lethal forms to milder forms. NM is usually the consequence of a gene mutation and the mode of inheritance varies between NM subclasses and different families. Mutations in six genes are known to cause NM; nebulin (NEB), alpha-actin, alpha-tropomyosin (TPM3), troponin T1, beta-tropomyosin (TPM2) and cofilin 2, of which nebulin and -actin are the most common. One of the main interests of my research is NEB. Nebulin is a giant muscle protein (600-900 kDa) expressed mainly in the thin filaments of striated muscle. Mutations in NEB are the main cause of autosomal recessive NM. The gene consists of 183 exons. Thus being gigantic, NEB is very challenging to investigate. NEB was screened for mutations using denaturing High Performance Liquid Chromatography (dHPLC) and sequencing. DNA samples from 44 families were included in this study, and we found and published 45 different mutations in them. To date, we have identified 115 mutations in NEB in a total of 96 families. In addition, we determined the occurrence in a world-wide sample cohort of a 2.5 kb deletion containing NEB exon 55 identified in the Ashkenazi Jewish population. In order to find the seventh putative NM gene a genome-wide linkage study was performed in a series of Turkish families. In two of these families, we identified a homozygous mutation disrupting the termination signal of the TPM3 gene, a previously known NM-causing gene. This mutation is likely a founder mutation in the Turkish population. In addition, we described a novel recessively inherited distal myopathy, named distal nebulin myopathy, caused by two different homozygous missense mutations in NEB in six Finnish patients. Both mutations, when combined in compound heterozygous form with a more disruptive mutation, are known to cause NM. This study consisted of molecular genetic mutation analyses, light and electron microscopic studies of muscle biopsies, muscle imaging and clinical examination of patients. In these patients the distribution of muscle weakness was different from NM. Nemaline bodies were not detectable with routine light microscopy, and they were inconspicuous or absent even using electron microscopy. No genetic cause was known to underlie cap myopathy, a congenital myopathy characterised by cap-like structures in the muscle fibres, until we identified a deletion of one codon of the TPM2 gene, in a 30-year-old cap myopathy patient. This mutation does not change the reading frame of the gene, but a deletion of one amino acid does affect the conformation of the protein produced. In summary, this thesis describes a novel distal myopathy caused by mutations in the nebulin gene, several novel nebulin mutations associated with nemaline myopathy, the first molecular genetic cause of cap myopathy, i.e. a mutation in the beta-tropomyosin gene, and a founder mutation in the alpha-tropomyosin gene underlying autosomal recessive nemaline myopathy in the Turkish population.

The six Gottschalk children Ursula, Elizabeth, Hal, Kurt, Freddy and Walter seated in a Strandkorb (roofed wicker beach chair); Nordeney, Germany. Portraits Children

Front row Walter (left) and Freddy; middle row Kurt (left) and Hal; back row Ursula (left) and Elizabeth